Ovid Therapeutics Inc. is sponsoring a study to investigate the effect of TAK-935 on the frequency of motor seizures in patients with 15q duplication syndrome during the maintenance period. More.

Ascendis Pharma, Inc. is sponsoring a natural history study to examine height velocity and comorbidities in children with ACH. More.

Ascendis Pharma, Inc. Is sponsoring a multicenter, double-blind, randomized, placebo-controlled, dose escalation trial evaluating the safety, efficacy, and pharmacokinetics of TransCon CNP administered once weekly in prepubertal children with ACH. More.

AGTC is currently conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with achromatopsia caused by mutations in the CNGB3 gene. If you are eligible to join the study and choose to participate, all study-related treatment costs and medical testing will be provided at no charge. Compensation for your time and travel expenses may also be provided. More.

Ionis Pharmaceuticals is investigating the safety, tolerability, and efficacy of IONIS-GHR-LRx in up to 42 adult patients with acromegaly being treated with long-acting somatostatin receptor ligands. Clinicaltrials.gov-NCT03548415.

Ionis Pharmaceuticals, Inc. is conducting a short-term study to assess changes in serum insulin-like growth factor 1 (IGF-1) over a 16-week treatment period in patients with acromegaly being treated with long-acting somatostatin receptor ligands (SRL). Clinicaltrials.gov-NCT03548415

Camurus AB is investigating the efficacy and safety of octreotide subcutaneous depot (CAM2029) in a 24-week randomized trial in 78 patients with acromegaly and who are on treatment with long-acting somatostatin analogues (ClinicalTrials.gov Identifier: NCT04076462).

Camurus AB is conducting a 52-week open-label trial to assess the long-term safety of octreotide subcutaneous depot (CAM2029) in 140 patients with acromegaly and who are on treatment with long-acting somatostatin analogues (ClinicalTrials.gov Identifier: NCT04125836).

Astellas Pharma Global Development, Inc. is sponsoring a phase 1 and phase 2 study of gilteritinib in combination with chemotherapy in children, adolescents and young adults with FMS-like tyrosine kinase 3 (FLT3)/internal tandem duplication (ITD) positive relapsed or refractory AML. Estimated enrollment is 97 participants. More.

Rubius Therapeutics is sponsoring a phase 1, open label, multicenter, multidose, first-in-human (FIH) dose escalation and expansion to determine the safety and tolerability, pharmacology, and antitumor activity of RTX-240 in adult patients with relapsed/refractory acute myeloid leukemia. More.

Lynk Pharmaceuticals is sponsoring a multicenter, open-label, phase 1 study designed to evaluate safety and tolerability of multi-kinase inhibitor LNK01002 in patients with AML. More.

Exicure, Inc. is sponsoring a phase 1b study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and preliminary efficacy of intratumoral cavrotolimod injections alone and in combination with intravenous pembrolizumab or cemiplimab in patients with advanced solid tumors. A phase 2 study will evaluate cavrotolimod given in combination with pembrolizumab or cemiplimab in patients with Merkel cell carcinoma and cutaneous squamous cell carcinoma. More.

Rubius Therapeutics is sponsoring a phase 1/2, open label, multicenter, multidose, first-in-human (FIH) dose escalation and expansion to determine the safety and tolerability, recommended phase 2 dose and optimal dosing interval, pharmacology, and antitumor activity of RTX-240 in adult patients with relapsed/refractory or locally advanced solid tumors. More.

Regeneron Pharmaceuticals is sponsoring a study in collaboration with Sanofi to evaluate the efficacy of dupilumab on the annualized rate of exacerbations in patients with allergic bronchopulmonary aspergillosis. Estimated enrollment is 170 participants. More.

Dicerna Pharmaceuticals, Inc. is sponsoring a study to test the experimental drug DCR-A1AT to see if it helps people with AIATD-associated liver disease. More.

A study is enrolling adults diagnosed with A1PI deficiency and COPD. This study will evaluate the weekly administration of A1PI augmentation therapy in patients with A1PI and COPD. For more information, visit: ClinicalTrials.gov –  NCT02722304

Sanofi Genzyme is conducting a phase II, randomized, double-blind, placebo-controlled study to evaluate the safety, efficacy, pharmacodynamics, and pharmacokinetics of SAR339375 in patients with Alport syndrome. More.

Alexion Pharmaceuticals is sponsoring a study to assess the efficacy and safety of ravulizumab for the treatment of adult participants with ALS. More.

Apellis Pharmaceuticals, Inc. is sponsoring a 24-month (including open label), phase 2, multicenter, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of pegcetacoplan in patients with ALS. More.

Helixmith Co., Ltd. is sponsoring a phase 2 study to evaluate the safety of intramuscular (IM) administration of Engensis in patients with ALS as compared to placebo. More.

Caelum Biosciences, Inc. is sponsoring a study to determine the recommended dose of CAEL-101, to facilitate progression of further clinical trials, and evaluate safety and tolerability of CAEL-101 in combination with the standard of care (cyclophosphamide-bortezomib-dexamethasone (CyBorD) chemotherapy and daratumumab) in patients with AL Amyloidosis. More.

Caelum Biosciences, Inc. is sponsoring a study to evaluate the effectiveness and safety of CAEL-101 in patients with Mayo Stage IIIa AL Amyloidosis. More.

Caelum Biosciences, Inc. is sponsoring a study to evaluate the effectiveness and safety of CAEL-101 in patients with Mayo Stage IIIb Amyloidosis. More.

Alnylam Pharmaceuticals is sponsoring a study to evaluate the efficacy and safety of patisiran in patients with ATTR amyloidosis with cardiomyopathy. More.

Alnylam Pharmaceuticals is sponsoring a study to evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously once every 3 months compared to placebo in patients with ATTR amyloidosis with cardiomyopathy. More.

Alnylam Pharmaceuticals is sponsoring a global observational study to describe epidemiological and clinical characteristics, natural history and real-world clinical management of ATTR amyloidosis patients; characterize the safety and effectiveness of patisiran as part of routine clinical practice in the real-world clinical setting; and describe disease emergence/progression in pre-symptomatic carriers of a known disease-causing transthyretin (TTR) mutation. More.

Ovid Therapeutics Inc. is sponsoring a study to assess the efficacy and safety of oral OV101 (gaboxadol) in pediatric patients with Angelman syndrome. More.

Regeneron Pharmaceuticals is sponsoring a study to assess the safety and tolerability of REGN7257 in patients with severe aplastic anemia that is refractory to or has relapsed while on standard of care immunosuppressive therapy (IST) and to evaluate the clinical efficacy of REGN7257 in IST-refractory/relapsed patients. More.

Aeglea Biotherapeutics is sponsoring a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D. More.

Genentech, Inc. is conducting a phase 3 single-arm study to evaluate the efficacy and safety of crovalimab in adult and adolescent patients with aHUS. More.

Genentech, Inc. is conducting a phase 3 single-arm study to evaluate the efficacy and safety of crovalimab in pediatric patients with aHUS. More.

Rigel Pharmaceuticals is conducting a phase 3 study to assess the efficacy of fostamatinib in patients with warm antibody AIHA. For more information, visit: ClinicalTrials:gov:NCT03764618

Savara, Inc. is sponsoring an interventional, randomized, double-blind, 2-arm, parallel groups, placebo-controlled, multi-center, phase 3 trial of once daily treatment with inhaled molgramostim or placebo for 48 weeks in adult patients with aPAP. More.

Neurogene, Inc. is sponsoring a phase 1/2 interventional, prospective, non-randomized, first in human (FIH), open-label study of a single dose administration of gene therapy in children who are 3 to 8 years old with neuronal ceroid lipofuscinosis (Batten) subtype 5 (CLN5) disease. Efficacy assessments in this study will evaluate motor, language, visual and cognitive function and each participant will be followed for safety and efficacy for 5 years after treatment. More.

Neurogene, Inc. is sponsoring a study to investigate the clinical characteristics and natural clinical progression of symptoms in patients with the CLN5 and CLN7 forms of Batten disease. This natural history study is being conducted to better understand disease course and to determine clinically relevant outcome measures for use in future clinical trials. More.

ImmunoGen, Inc. is sponsoring an open-label, multi-center, phase 1/2 study to determine the maximum tolerated dose and assess the safety, tolerability, pharmacokinetics, immunogenicity, and anti-leukemia activity of IMGN632 when administered as monotherapy to patients with CD123+ disease. The study is enrolling a pivotal cohort of frontline BPDCN patients and a cohort of relapsed/refractory BPDCN patients. More.

Regeneron Pharmaceuticals and Sanofi are conducting a study to evaluate the efficacy and safety of dupilumab in adult patients with bullous pemphigoid. More.

Achillion Pharmaceuticals is investigating the safety and efficacy of ACH-4471, an orally administered complement factor D inhibitor, in patients with C3 Glomerulopathy (C3G), including Dense Deposit Disease (DDD) and C3 Glomerulonephritis (C3GN). Two clinical studies are being conducted in multiple countries. For more information about these studies, please visit ClinicalTrials.gov: NCT03369236 and ClinicalTrials.gov: NCT03124368.

ChemoCentryx is conducting a study to evaluate the effect of avacopan treatment on renal disease activity in patients with C3G. For more information visit:  https://clinicaltrials.gov/ct2/show/NCT03301467?cond=NCT03301467&rank=1

Apellis Pharmaceuticals, Inc. is sponsoring a phase 2, multicenter, open-label, randomized, controlled study designed to evaluate the safety and efficacy of pegcetacoplan in patients who have post-transplant recurrence of C3G. More.

Apellis Pharmaceuticals, Inc. is sponsoring a phase 3 study to assess the efficacy and safety of twice-weekly subcutaneous doses of pegcetacoplan compared to placebo in patients with C3 glomerulopathy based on a reduction in proteinuria. The anticipated enrollment is up to 90 participants. More.

Aspa Therapeutics is sponsoring a study to evaluate the safety, tolerability and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric patients with Canavan disease. The estimated enrollment for this study is 18 participants. More.

Recursion Pharmaceuticals Inc. is sponsoring a phase 2, multi-center, randomized, double-blind, placebo-controlled study to evaluate the safety, efficacy, and pharmacokinetics of REC-994 compared to placebo for the treatment of patients with symptomatic CCM. More.

Travere Therapeutics, Inc. is sponsoring an observational, multicenter study to determine the prevalence of CTX in patients diagnosed with early-onset idiopathic bilateral cataracts. More.

Zogenix, Inc. is sponsoring a multicenter, double-blind, parallel-group, placebo controlled, 2-part study to evaluate the safety and efficacy of ZX008 when used as adjunctive therapy for the treatment of uncontrolled seizures in children and adults with cyclin-dependent kinase like-5 (CDKL5) deficiency disorder (CDD).  More.

Ovid Therapeutics Inc. is sponsoring a study to investigate the effect of TAK-935 on the frequency of motor seizures in patients with CDKL5 deficiency disorder during the maintenance period. More.

Actelion Pharmaceuticals is sponsoring a study to assess the efficacy and safety of selexipag in patients with inoperable or persistent/recurrent CTEPH. More.

Actelion Pharmaceuticals is sponsoring a study to evaluate the effect of macitentan 75 mg versus placebo on exercise capacity at week 28 in patients with CTEPH. More.

Swedish Orphan Biovitrum is sponsoring a phase 3, randomized, double-blind, placebo-controlled, multicenter study to assess the safety and efficacy of pegcetacoplan in increasing hemoglobin levels from baseline in patients with CAD in order to avoid transfusion.  More.

Neurocrine Biosciences is sponsoring a phase 3 study to evaluate the efficacy, safety and tolerability of crinecerfont versus placebo administered for 24 weeks in adult patients with classic CAH due to 21-hydroxylase deficiency. More.

Neurocrine Biosciences is sponsoring a phase 3 study to evaluate the efficacy, safety, and tolerability of crinecerfont versus placebo administered for 28 weeks in pediatric patients (2–17 years of age) with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. More.

Adrenas Therapeutics, Inc. is sponsoring a study to evaluate the safety, tolerability and efficacy of AAV5 based BBP-631 in adult patients with classic congenital adrenal hyperplasia. More.

Researchers at the University of British Columbia are conducting a survey to collect data about behavior following treatment for creatine deficiency syndrome (CDS). Questions for patients and their parents or caregivers pertain to diagnostic history, presenting symptoms during life span, and response to treatments with focus on patient and caregiver reported observations. More.

ModernaTX, Inc. is sponsoring a study to evaluate the efficacy of mRNA 1647 vaccine in healthy CMV-seronegative female participants and the safety and reactogenicity of mRNA-1647 vaccine in all healthy participants. Estimated enrollment is 6900 participants. More.

ModernaTX, Inc. is sponsoring a study to evaluate the safety, reactogenicity and immunogenicity of the mRNA-1647 vaccine administered according to a 3-study injection schedule in healthy cytomegalovirus-seronegative and cytomegalovirus-seropositive Japanese adults 18 to 40 years of age in the United States. Estimated enrollment is 48 participants. More.

Shire is sponsoring study is to compare the efficacy and safety of maribavir to valganciclovir for the treatment of CMV infection in asymptomatic hematopoietic stem  cell transplant recipients. For more information visit: https://clinicaltrials.gov/ct2/show/record/NCT02927067

Shire is sponsoring a study is to determine if an investigational treatment (Maribavir) is safe and effective in treating transplant recipient subjects with CMV infections that are refractory or resistant to treatment with ganciclovir, valganciclovir, foscarnet, or cidofovir. For more information visit: https://clinicaltrials.gov/ct2/show/record/NCT02931539  

Rocket Pharmaceuticals Inc. is sponsoring a non-randomized open-label phase 1 study to evaluate the safety and toxicity of gene therapy using a recombinant adeno-associated virus serotype 9 (AAV9) containing the human lysosome-associated membrane protein 2 isoform B (LAMP2B) transgene (investigational product (IP), RP-A501) in male patients with Danon disease. More.

LEO Pharma is sponsoring a double-blind, multi-center, randomised, vehicle-controlled, within-subject trial designed to establish the efficacy and safety of delgocitinib cream in the treatment of adults with DLE. More.

Researchers at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the NIH are conducting two studies of people who have reproductive disorders. The studies will look into how genes and production of gonadotropin-releasing hormone affect puberty and infertility. Individuals 14 years of age and older with low testosterone or estrogen may be eligible. For more information visit ClinicalTrials.gov: NCT01500447 and ClinicalTrials.gov: NCT01511588.

Ovid Therapeutics Inc. is sponsoring a study is to investigate the effect on the frequency of all seizures (convulsive and drop) in patients with Dravet syndrome treated with TAK-935 compared to placebo. More.

Eisai Inc. is sponsoring a study to determine if lorcaserin has superior efficacy compared to placebo on percent change in frequency of convulsive seizures per 28 days in patients with Dravet syndrome. More.

Astellas Pharma Inc. is sponsoring a study to evaluate the tolerability and safety of ASP0367 in boys with DMD. The pharmacokinetics, pharmacodynamics and efficacy on muscle function of ASP0367 will also be evaluated. Estimated enrollment is 18 participants. More.

PTC Therapeutics is sponsoring a study to characterize the long-term effects of ataluren-mediated dystrophin restoration on progression of DMD. This is a randomized, double-blind, placebo-controlled, 72-week study followed by a 72-week open-label period. For more information visit: ClinicalTrials.gov:NCT03179631

AstraZeneca Pharmaceuticals is sponsoring a phase 3 study is to investigate the use of benralizumab as a treatment for patients with EoE. More.

AstraZeneca Pharmaceuticals is sponsoring a randomized, double blind, active-controlled, parallel group, multicenter 52-week phase 3 study to compare the efficacy and safety of benralizumab 30 mg versus mepolizumab 300 mg administered by subcutaneous injection in patients with relapsing or refractory EGPA on corticosteroid therapy with or without stable immunosuppressive therapy. More.

Atara Biotherapeutics is sponsoring a study to evaluate tabelecleucel in patients with EBV-associated diseases. More.

Neurocrine Biosciences is sponsoring a phase 2, double-blind study to assess the efficacy, safety, tolerability and pharmacokinetics of NBI-827104 in pediatric patients with epileptic encephalopathy with continuous spike-and-wave during sleep (EECSWS). More.

Regeneron Pharmaceuticals is sponsoring a study to evaluate the leptin receptor agonist antibody REGN4461 as a treatment for metabolic abnormalities in adult patients with familial partial lipodystrophy. Estimated enrollment is 40 participants. More.

Incyte Corporation is sponsoring an interventional, randomized, double-blind, placebo-controlled, phase 2 trial to evaluate the safety, efficacy, tolerability and pharmacokinetics of INCB000928 in patients with FOP. More.

Ovid Therapeutics Inc. is sponsoring a study to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in patients with Fragile X syndrome. More.

The Neurodevelopmental Disabilities Laboratory at Northwestern University is conducting a research project investigating language and social characteristics related to the gene involved in fragile X syndrome. This study involves individuals with fragile X syndrome as well as their parents and siblings who are carriers of the FMR1 premutation. Researchers can travel to participants in the DC or Maryland area and participants will be compensated! For more information contact: 1-877-275-7187; Email: [email protected]; Website: http://ndl.northwestern.edu/  ; Interested in participating- click here!

PTC Therapeutics is sponsoring a study to assess the efficacy and safety of vatiquinone for the treatment of patients with Friedreich ataxia. More.

Prevail Therapeutics is sponsoring a phase 1/2, multi-center, open-label ascending dose, first-in-human study that will evaluate the safety and effect of intra-cisternal PR006 administration on progranulin protein (PGRN) levels in patients with FTD-GRN. More.

Arizona State University and Washington State University are conducting a study to determine if proactive intervention can improve speech and language outcomes in infants with classic galactosemia. More.

Camurus AB is conducting a randomized, multi-center, open-label, active-controlled phase 3 trial to compare the safety and efficacy of octreotide subcutaneous depot to octreotide LAR or lanreotide ATG in patients with advanced, well-differentiated GEP-NET. More.

Blueprint Medicines Corporation is sponsoring an open-label, randomized, phase 3 study in patients with locally advanced unresectable or metastatic GIST (advanced GIST) of avapritinib (BLU-285) versus regorafenib in patients previously treated with imatinib and 1 or 2 other tyrosine kinase inhibitors. More.

Deciphera Pharmaceuticals LLC is sponsoring a 2-arm, randomized, open-label, international, multicenter study comparing the efficacy of DCC-2618 to sunitinib in GIST patients who progressed on or were intolerant to first-line anticancer treatment with imatinib. More.

AVROBIO is conducting an open-label, multinational phase 1/2 study to assess the safety and efficacy of the ex vivo, lentiviral vector-medicated gene therapy AVR-RD-02 in patients with Gaucher disease type 1. Participants must be between the ages of 18-50 years old and postpubertal at screening. More.

A study is in progress to evaluate the effect of VPRIV® on bone pain and bone density in patients with type 1 Gaucher disease. Patients between 16 and 65 years of age diagnosed with type 1 Gaucher disease may be eligible to participate. For more information, visit: ClinicalTrials.gov – NCT02574286

Prevail Therapeutics is sponsoring an open-label, phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose PR001 in infants diagnosed with type 2 Gaucher disease. More.

Sanofi Genzyme is investigating an orally administered substrate reduction therapy in Gaucher disease type 3 as part of the 2-part LEAP clinical research study. The study is being conducted in multiple countries including the US, UK, and Germany. For more information, visit: ClinicalTrails.gov – NCT0284035

Sanofi is conducting a Phase III clinical trial to evaluate the efficacy and safety of sarilumab in patients with giant cell arteritis (GCA).  For more information, visit: ClinicalTrials.gov-NCT03600805

Janssen Research & Development, LLC is sponsoring a study to evaluate the efficacy of guselkumab compared to placebo, in combination with a 26-week glucocorticoid (GC) taper regimen, in adult patients with new-onset or relapsing giant cell arteritis (GCA). More.

ModernaTX, Inc. is sponsoring a study to evaluate the tolerability and safety of mRNA-3745 through intravenous administration in patients with GSD1a. Estimated enrollment is 18 participants. More.

Sanofi Genzyme is currently conducting a multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of Venglustat in late-onset GM2. A secondary arm will consider participants with diagnosis of juvenile/adolescent GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1 or juvenile adult galactosialidosis. More.

Ascendis Pharmaceuticals, Inc. Is sponsoring a study to compare the efficacy and safety of once-weekly lonapegsomatropin with placebo and a daily somatropin product in adult patients with growth hormone deficiency. More.

The Center for Mendelian Genomics at Baylor College of Medicine is seeking families with Hallermann Streiff Syndrome (HSS) to participate in a study to understand the underlying genetic explanation for this rare disorder. There is no cost to families that participate. For more information, contact Dr. Richard Alan Lewis at (713) 798-3030 or [email protected].

Janssen Research & Development, LLC is sponsoring a study to evaluate the safety of M281 administered to pregnant women who are at high risk for early onset severe HDFN. The effectiveness of M281 will be measured by looking at the percentage of participants with live birth at or after a gestational age of 32 weeks and without a need for an intrauterine transfusion throughout their pregnancy. Estimated enrollment is 15 participants. More.

Hoffmann-La Roche is sponsoring a phase IV study to evaluate the impact of emicizumab prophylaxis on overall health, physical activity and joint outcomes in patients between 13 and 70 years of age with severe hemophilia A without factor VIII (FVIII) inhibitors or moderate hemophilia A without FVIII inhibitors who are receiving FVIII prophylaxis. Estimated enrollment is 120 participants. More.

Genentech, Inc. is conducting a phase IIIb, multicenter, open-label, single-arm study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of subcutaneous emicizumab in patients from birth to 12 months of age with hemophilia A without inhibitors. More.

The BAX 855 study is an international clinical research study looking at the safety and efficacy of an investigational medication in pediatric patients with severe hemophilia A.  The phase 3 study will involve approximately 125 people, under age 6, who are previously untreated. For more information, visit: ClinicalTrials.gov – NCT02615691

Sigilon Therapeutics, Inc. is sponsoring a first-in-human (FIH), phase 1/2, multi-centre, open-label, dose escalation study to assess the safety, tolerability, and preliminary efficacy of SIG-001 in adult patients with severe or moderately severe hemophilia A without inhibitors. More.

Sangamo is conducting a Phase 1/2 clinical trial to evaluate safety, tolerability and preliminary efficacy of SB-FIX in Hemophilia B. For more information, visit: ClinicalTrials.gov — NCT02695160

Blueprint Medicines Corporation is sponsoring a phase 1, open-label, first-in-human study designed to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary antineoplastic activity of BLU- 554 administered orally in patients with FGF19 IHC+ HCC. More.

Ionis Pharmaceuticals, Inc. is conducting a study to evaluate the safety and tolerability, as well as the pharmacokinetic and pharmacodynamic profiles of single and multiple doses of ION-TTR-LRx administered subcutaneously to healthy volunteers and patients with hereditary transthyretin-mediated amyloidosis (hATTR ). ClinicalTrials.gov — NCT03728634

The HIBM Phase I clinical trial will test a single dose of the drug candidate DEX-M74 in a small group of patients with a focus on drug safety and how well patients tolerate the drug. A natural history study of HIBM is also being conducted to collect health information from patients to understand how the disease develops. For more information visit here and ClinicalTrials.gov: NCT01417533.

The ELATRON study (ELA-401) is assessing the long-term effect of Elaprase® on height and weight in boys diagnosed with Hunter syndrome. Boys under the age of 6 years who are diagnosed with Hunter syndrome and have not taken either Elaprase® or Idursulfast-IT may be eligible to participate. For more information, visit: ClinicalTrials.gov – NCT02455622

AstraZeneca Pharmaceuticals is sponsoring a multicenter, randomized, double-blind, parallel-group, placebo-controlled, 24-week phase 3 study to compare the efficacy and safety of benralizumab versus placebo administered by subcutaneous injection every four weeks in patients with HES. More.

Saniona is sponsoring a phase 2b, double-blind, randomized, placebo-controlled, multi-center, dose-finding study to evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in patients 16 years of age or older with HO. Estimated enrollment is 104 participants. More.

Shire is conducting the PARADIGHM™ global natural history registry to learn more about hypoparathyroidism under conditions of normal clinical practice. For more information visit ClinicalTrials.gov: NCT01922440.

Takeda is studying the effect of recombinant human parathyroid hormone [rhPTH(1-84)] on symptom improvement and metabolic control in adults with hypoparathyroidism. For more information visit ClinicalTrials.gov:NCT03324880

The PARALLAX Study is being conducted to characterize the effects of twice daily administration of rhPTH(1-84) on the way the body handles rhPTH(1-84) as well as its actions and safety and tolerability over the course of 24 hours as compared with the current daily dosing regimen of marketed rhPTH(1-84) (marketed in the United States as Natpara ®). For more information, visit:ClinicalTrials.gov:NCT02781844

RemeGen Co., Ltd. is sponsoring a phase 2, multi-center, randomized, double-blind, placebo-controlled clinical study to determine the efficacy and safety of Telitacicept for Injection (RC18) in treating IgA nephropathy. Estimated enrollment is 30 participants. More.

Retrophin is conducting the PROTECT study, a randomized, multicenter, double-blind, parallel-group, active-control study, to evaluate the potential benefit of sparsentan on kidney function by analyzing change in proteinuria (protein in urine) and estimated glomerular filtration rate (eGFR) as compared to current standard treatment. For more information, visit: https://www.clinicaltrials.gov/ct2/show/NCT03762850

Alexion Pharmaceuticals, Inc. is sponsoring a study to evaluate the safety and efficacy of ravulizumab administered by intravenous (IV) infusion compared to placebo and demonstrate proof-of-concept of the efficacy of terminal complement inhibition in participants with IgA nephropathy. More.

Achillion Pharmaceuticals is investigating the effects of ACH-4471, an orally administered complement factor D inhibitor, on complement C3 levels in patients with immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN). The clinical study is being conducted in multiple countries. For more information about this study, please visit ClinicalTrials.gov: NCT03124368.

Apellis Pharmaceuticals, Inc. is sponsoring a phase 2, multicenter, open-label, randomized, controlled study designed to evaluate the safety and efficacy of pegcetacoplan in patients who have post-transplant recurrence of IC-MPGN. More.

Apellis Pharmaceuticals, Inc. is sponsoring a phase 3 study to assess the efficacy and safety of twice-weekly subcutaneous doses of pegcetacoplan compared to placebo in patients with IC-MPGN based on a reduction in proteinuria. The anticipated enrollment is up to 90 participants. More.

UCB Biopharma SRL is sponsoring a study is to determine the clinical efficacy of rozanolixizumab in maintenance treatment and assess safety and tolerability of rozanolixizumab in adult study participants with primary immune thrombocytopenia. The study’s estimated enrollment is 90 participants. More.

Researchers at the Steven and Alexandra Cohen Children’s Medical Center are conducting a study to determine the prevalence of heart abnormalities such as congenital heart disease and pulmonary hypertension in people with IP. Patients with IP who live in the New York metropolitan area and have not had an echocardiogram may be able to receive an echocardiogram at no cost. This study may help shed some light on the cardiovascular effects of IP, and may impact the care of all patients with IP. For more information contact [email protected] (with the subject “IP RESEARCH”) so the researchers can discuss the details of the study with you.

Shire is sponsoring a study to evaluate the efficacy of Cinryze administered with plasmapheresis, plasma exchange, or immune adsorption treatments and sucrose-free immunoglobulin (IVIg) for the treatment of acute antibody-mediated rejection (AMR) of renal allograft in kidney transplant recipients as measured by the proportion of participants with new or worsening transplant glomerulopathy (TG) at 6 months after treatment initiation. For more information visit: https://clinicaltrials.gov/ct2/show/record/NCT02547220

Passage Bio, Inc. is sponsoring a study to evaluate the safety, tolerability and efficacy of a gene therapy, PBKR03, in patients with early infantile Krabbe Disease. More.

Ovid Therapeutics Inc. is sponsoring a study is to investigate the effect on the frequency of all seizures (convulsive and drop) in patients with LGS treated with TAK-935 compared to placebo. More.

Zogenix, Inc. is sponsoring a two-part, multicenter trial to assess the efficacy, safety, and pharmacokinetics of ZX008 (Fenfluramine Hydrochloride) when used as adjunctive therapy for uncontrolled seizures in children and adults (age 2 to 35) with Lennox-Gastaut Syndrome (LGS). Part 1 is a double-blind, parallel-group, placebo-controlled study; and Part 2 is an open-label extension. For more information visit https://clinicaltrials.gov/show/NCT03355209

Vigil Neuroscience, Inc.is sponsoring a natural history study in ALSP. Data will be collected to contribute to the development of future novel therapies that focus on the neuropathophysiological features that underlie ALSP and that are essential to reverse, delay, or stop progression of this debilitating disorder. More

The Hugo W. Moser Research Institute at Kennedy Krieger is conducting a natural history study of LBSL to characterize the expected level of impairment based on a patient’s genotype. For more information visit: https://clinicaltrials.gov/ct2/show/NCT03624374?cond=LBSL&rank=1

PTC Therapeutics is sponsoring a study to evaluate the safety and efficacy of deflazacort in patients with LGMD2I. More.

Alexion Pharmaceuticals, Inc. is sponsoring a study to evaluate the safety and efficacy of ravulizumab administered by intravenous (IV) infusion compared to placebo and demonstrate proof-of-concept of the efficacy of terminal complement inhibition in participants with lupus nephropathy. More.

PrECOG, LLC is sponsoring a study to evaluate the effectiveness and potential side effects of ixazomib combined with ibrutinib chemotherapy in treating patients who have relapsed or refractory mantle cell lymphoma. More.

PrECOG, LLC is sponsoring a study to evaluate the effectiveness and potential side effects of venetoclax combined with bendamustine and rituximab chemotherapy in treating patients ages 60+ who have mantle cell lymphoma. More.

Blueprint Medicines Corporation is sponsoring a an open-label, single arm, phase 2 study evaluating the efficacy and safety of avapritinib (BLU-285), a selective KIT mutation-targeted tyrosine kinase inhibitor, in patients with advanced systemic mastocytosis (AdvSM), including patients with aggressive SM (ASM), SM with associated hematologic neoplasm (SM-AHN), and mast cell leukemia (MCL). More.

Blueprint Medicines Corporation is sponsoring a phase 2, randomized, double-blind, placebo-controlled study comparing the efficacy and safety of avapritinib + best supportive care (BSC) with placebo + BSC in patients with indolent systemic mastocytosis (ISM) and smoldering systemic mastocytosis (SSM) whose symptoms are not adequately controlled by BSC. The study will be conducted in 3 parts. All patients will receive treatment with avapritinib during part 3 including those rolling over from the placebo group. More.

Incyte Corpopration is conducting a study to assess the clinical activity and safety of INCMGA00012 in patients with metastatic merkel cell carcinoma. For more information, visit: ClinicalTrials.gov:NCT035997

The National Cancer Institute is conducting a phase III study to determine how well pembrolizumab works compared to standard of care observation in treating patients with stage I-III Merkel cell cancer that has been completely removed by surgery. More.

Shire is conducting a study to evaluate the effects of intrathecal (IT) administration of SHP611 on gross motor function, using the gross motor function classification in metachromatic leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. More.

ModernaTX, Inc. is sponsoring a study to evaluate the safety, pharmacokinetics and pharmacodynamics of mRNA-3705 in patients with MMA due to methylmalonyl-coenzyme A mutase deficiency. Estimated enrollment is 33 participants. More.

The National Human Genome Research Institute is conducting this study to evaluate patients with MMA to learn more about the genetic causes of the various types of this inherited metabolic disorder and the medical complications associated with it. For more information visit ClinicalTrials.gov: NCT00078078.

ModernaTX, Inc. is conducting a first-in-human phase 1/2 study to evaluate mRNA-3704 in patients 1-18 years of age with MMA due to methylmalonyl-coenzyme A mutase (MUT) deficiency who have elevated plasma methylmalonic acid. More.

PTC Therapeutics is sponsoring a parallel-arm, double-blind, placebo-controlled study to evaluate the efficacy and safety of vatiquinone to treat mitochondrial disease in patients with refractory epilepsy. More.

Researchers at the University of British Columbia are conducting a survey to collect data about the natural history of Morquio B disease and late-onset GM1. Questions pertain to health, medical interventions and treatments, quality of life, presenting symptoms during life span, and diagnostic history. More.

REGENXBIO Inc. is conducting a phase I, first-in-human, multicenter, open-label, dose escalation study of RGX-111 gene therapy in patients with MPS I. Two, one time doses of RGX-111 will be studied in approximately 5 patients age 6 years or older. Safety will be the primary focus for the initial 24 weeks after treatment (primary study period) and study participants will continue to be assessed (safety and efficacy) for up to a total of 104 weeks following treatment with RGX-111. For more information, please visit: Clinicaltrials.gov:NCT03580083 

REGENXBIO Inc. is conducting a clinical trial to study RGX-121 as a gene therapy for mucopolysaccharidosis type II (MPS II or Hunter syndrome). This is a Phase I/II, first-in-human, multicenter, open-label, dose escalation study of RGX-121. Two, one time doses of RGX-121 will be studied in approximately 6 children who have severe MPS II. Safety will be the primary focus for the initial 24 weeks after treatment (primary study period) and then the children will continue to be assessed (safety and efficacy) for up to a total of 104 weeks following treatment with RGX-121. For more information, please visit: ClinicalTrials.gov:NCT03566043

Regeneron Pharmaceuticals is sponsoring a study to evaluate the effect of pozelimab and cemdisiran on daily functioning in patients with symptomatic generalized myasthenia gravis. Estimated enrollment is 210 participants. More.

argenx BVBA is conducting a long-term, single-arm, open-label, multicenter phase 3 follow-on trial of the ARGX-113-1704 study to evaluate the safety and tolerability of ARGX-113 in patients who have myasthenia gravis with generalized muscle weakness. For more information visit ClinicalTrials.gov:NCT03770403

Janssen Research & Development, LLC is sponsoring a study to evaluate the efficacy and safety of nipocalimab compared to placebo in patients with generalized myasthenia gravis (gMG). More.

Celgene is conducting a clinical trial of fedratinib in patients with DIPSS (dynamic international prognostic scoring system)-intermediate or high- risk primary myelofibrosis (PMF), post-polycythemia vera myelofibrosis (post-PV MF), or post-essential thrombocythemia myelofibrosis (post-ET MF) and previously treated with Ruxolitinib to evaluate the percentage of patients with at least a 35% reduction of spleen volume and to evaluate the safety of fedratinib. More.

Incyte Corporation is sponsoring a study to compare the efficacy and safety of parsaclisib when combined with ruxolitinib versus placebo combined with ruxolitinib in patients with myelofibrosis who have suboptimal response while receiving ruxolitinib monotherapy. More.

Incyte Corporation is sponsoring a study to compare the efficacy of parsaclisib when combined with ruxolitinb versus placebo combined with ruxolitinib in patients with myelofibrosis. More.

Incyte Corporation is sponsoring a study to assess the safety, tolerability, and efficacy of itacitinib immediate release tablets in patients with primary or secondary myelofibrosis who have received prior ruxolitinib and/or fedratinib monotherapy. More.

Lynk Pharmaceuticals is sponsoring a multicenter, open-label, phase 1 study designed to evaluate safety and tolerability of multi-kinase inhibitor LNK01002 in patients with primary myelofibrosis, or myelofibrosis due to polycythemia vera. More.

Genentech, Inc. and the University of Pittsburgh, along with collaborating centers across the United States, are conducting a research study to examine the effectiveness of tocilizumab in adult myositis patients. Although tocilizumab is FDA-approved for use in rheumatoid arthritis, it is considered experimental when used for myositis. Basic inclusion criteria are: 1) medical diagnosis of polymyositis (PM) or dermatomyositis (DM); 2) symptoms of active disease, such as weakness of the large muscles closest to the trunk of the body, and/or abnormal muscle enzymes, and/or rash of DM; 3) have experienced little or no improvement of symptoms in response to taking steroids (prednisone) or other immunosuppressive (IS) medications, or could not tolerate other IS medications. Participants will be randomized (like a flipping a coin) to receive either intravenous tocilizumab or placebo (an inactive agent, like a sugar pill). The study includes 10 visits over a 48 week period (but study drug will only be given for monthly for 6 visits). Study procedures include: questionnaires, laboratory studies (blood draw), manual muscle testing, and a brief physical exam. Participants will receive the study drug and all other study procedures at no cost. More.

Takeda is conducting a study to assess the safety and tolerability of TAK-994 following multiple oral doses in patients with narcolepsy type 1. More.

Eloxx Pharmaceuticals, Inc. is conducting a phase 2 open label study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of multiple dose levels of subcutaneously administered ELX-02 in patients with cystinosis who have one or more nonsense mutations in the CTNS (cystinosin) gene. More.

Recursion Pharmaceuticals Inc. is sponsoring a parallel-group, two-staged, phase 2/3, randomized, multi-center study to evaluate the safety and efficacy of REC-2282 in patients with progressive NF2 mutated meningiomas, with either NF2 disease-related meningioma or recurrent sporadic meningiomas that have NF2 mutations. More.

Claris Biotherapeutics, Inc. is sponsoring a study to evaluate the safety and efficacy of CSB-001 ophthalmic solution 0.1% in patients with stage 2 or 3 neurotrophic keratitis. Estimated enrollment is 108 participants. More.

The National Cancer Institute is conducting a natural history study of children and adults with ONB to better understand the course of the disease, tumor characteristics, response to treatments and management of the treatment. More.

The National Cancer Institute is conducting a trial to determine if giving the immunotherapy drug bintrafusp alfa can help ONB shrink or disappear. More.

Prevail Therapeutics is sponsoring a phase 1/2a, multicenter, open-label, ascending dose, first in-human study that will evaluate the safety of intracisternal PR001 administration in patients with moderate to severe Parkinson disease with at least 1 pathogenic GBA1 gene mutation. More.

Apellis Pharmaceuticals, Inc. is sponsoring an open-label, single-arm, phase 2 study to evaluate the safety, efficacy and biological activity of pegcetacoplan in adolescents 12-17 years old with PNH. More.

Regeneron Pharmaceuticals is sponsoring a study to evaluate the effect of pozelimab and cemdisiran combination therapy versus ravulizumab therapy on hemolysis and red blood cell transfusions in patients with active PNH who have not had complement inhibitor treatment or have not recently received complement inhibitor therapy. Estimated enrolment is 124 participants. More.

Regeneron Pharmaceuticals is sponsoring a study to evaluate the effect of pozelimab and cemdisiran combination therapy on hemolysis, as assessed by lactate dehydrogenase, in patients with PNH who switch from eculizumab or ravulizumab therapy versus patients who continue eculizumab or ravulizumab therapy. Estimated enrollment is 140 participants. More.

BioCryst Pharmaceuticals is sponsoring a study to evaluate the efficacy and safety of BCX9930 monotherapy for the treatment of PNH compared to continued C5 inhibitor therapy in adult PNH patients with residual anemia despite treatment with a C5 inhibitor. Estimated enrollment is 81 participants. More.

BioCryst Pharmaceuticals is sponsoring a study to evaluate the efficacy and safety of BCX9930 monotherapy for the treatment of adult patients with PNH not currently receiving complement inhibitor therapy. Estimated enrollment is 57 participants. More.

Genentech, Inc. is conducting a phase 3 randomized, open-label, active-controlled study to evaluate the efficacy and safety of crovalimab compared with eculizumab in patients with PNH who have not been previously treated with complement inhibitor. More.

Genentech, Inc. is conducting a phase 3 randomized, open-label, active-controlled study to evaluate the efficacy and safety of crovalimab compared with eculizumab in patients with PNH who are currently treated with complement inhibitor. More.

Achillion Pharmaceuticals is investigating the safety and efficacy of ACH-4471, an orally administered complement factor D inhibitor, in patients with Paroxysmal Nocturnal Hemoglobinuria (PNH). For more information about this study, please visit ClinicalTrials.gov: NCT03053102.

Amgen is conducting a randomized, double-blind, active-controlled phase 3 study to evaluate the efficacy and safety of ABP 959 compared with eculizumab in adult patients with PNH. For more information about this study, please visit ClinicalTrials.gov:NCT03818607

BioCryst Pharmaceuticals is sponsoring a first-in-human study of BCX9930 in healthy volunteers and patients with PNH. This is a 3-part phase 1 dose-ranging study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single (part 1) and multiple (part 2) ascending doses of BCX9930 in healthy volunteers and in patients with PNH (part 3). More.

Cabaletta Bio is conducting a phase 1 study to find the maximum tolerated dose and optimal fractionated infusion schedule of an investigational cell therapy, DSG3-CAART, that can be given to patients with mucosal-dominant pemphigus vulgaris who are inadequately managed by standard therapies. More.

Synlogic is sponsoring an open-label, single-arm phase 2 study to assess the safety and efficacy of SYNB1618 in adult patients with PKU. Evaluations and assessments will be conducted at the clinical site or by a home healthcare professional at an alternative location. Estimated enrollment is 12 participants. More.

Travere Therapeutics, Inc. is currently enrolling patients with pantothenate kinase-associated neurodegeneration (PKAN) in the FOsmetpantotenate Replacement Therapy (FORT) Study, a Phase 3 clinical study assessing the safety and efficacy of fosmetpantotenate (RE-024). Fosmetpantotenate is a potential treatment designed to restore the metabolic product of the missing or dysfunctional enzyme in PKAN. Patients with PKAN who are 6-65 years of age may be eligible to participate in the study. For more information https://clinicaltrials.gov/ct2/show/NCT03041116. 

Genzyme is currently conducting a phase 4 prospective study aimed at characterizing the pharmacokinetics of aglucosidase alfa manufactured at the 4000L scale in patients with late-onset Pompe disease. Patients between 8 and 18 years of age with a confirmed diagnosis of Pompe disease and who have not been previously treated with aglucosidase alfa may be eligible to participate in the PAPAYA study.  For more information visit Clinicaltrials.gov Identifier: NCT01410890.

Spark Therapeutics is sponsoring a study to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adult patients with clinically moderate, late-onset Pompe disease receiving enzyme replacement therapy. More.

GenKyoTex Suisse SA, a subsidiary of Calliditas Therapeutics AB is conducting a 52-week phase 2b/3 trial of setanaxib with a 52-week extension phase in patients with PBC and elevated liver stiffness. The main goal of this clinical trial is to evaluate the efficacy and safety of setanaxib in patients with PBC and elevated liver stiffness who had intolerance or inadequate response to ursodeoxycholic acid (UDCA). The trial will recruit patients in the US, Europe, Israel, Australia and New Zealand. More.

CymaBay Therapeutics, Inc. is sponsoring a study to evaluate seladelpar as a treatment for patients with PBC who have an inadequate control to or an intolerance to ursodeoxycholic acid. Determination of biochemical improvement in cholestasis markers will be based on ALP and total bilirubin, and the safety of seladelpar treatment will be compared to placebo.  More.

Advicenne is conducting a phase III, multicenter study comparing the efficacy of ADV7103 versus placebo in preventing the development of metabolic acidosis defined by serum bicarbonate level in pediatric (6 months to <18 years) and adult (18 to 65 years) individuals with primary dRTA. For more information visit ClinicalTrials.gov-NCT03644706

Travere Therapeutics, Inc. is sponsoring a study to determine the long-term nephroprotective potential of treatment with sparsentan as compared to an angiotensin receptor blocker in patients with FSGS. For more information visit: Clinicaltrials.gov-NCT03493685.

Dicerna Pharmaceuticals, Inc. is sponsoring a study to evaluate the efficacy and safety of DCR-PHXC in children and adults with PH1 and PH2. More.

Dicerna Pharmaceuticals, Inc. is sponsoring a natural history study of adults, adolescents, and children (≥ 2 years of age) with genetically confirmed primary hyperoxaluria type 3 (PH3) who have a history of stone events during the last 3 years and/or the presence of pre-existing stones detected by renal ultrasound at screening. More.

Dicerna Pharmaceuticals, Inc. is sponsoring a study to evaluate DCR-PHXC in patients with primary hyperoxaluria type 1 (PH1) or type two (PH2) who have severe renal impairment, with or without dialysis. More.

Astellas Pharma Inc. is sponsoring a study to assess the safety and tolerability of ASP0367 in patients with primary mitochondrial myopathy. The effect of ASP0367 on functional improvement and fatigue will also be evaluated. Estimated enrollment is 149 participants. More.

Stealth Biotherapeutics is recruiting for MMPOWER-3, a multi-center, phase 3, randomized, double-blind, placebo-controlled trial in patients with genetically confirmed and clinically diagnosed primary mitochondrial myopathy (PMM). The objectives of the study are to evaluate the effects of elamipretide therapy on functional assessments (6-Minute Walk Test), patient and clinician reported questionnaires, and safety in patients with PMM. For more information visit ClinicalTrials.gov NCT03323749

Atara Biotherapeutics is sponsoring a study to evaluate the safety and tolerability of ATA188 as a monotherapy in parts 1 and 2, to determine the recommended part 2 dose of ATA188 as monotherapy in part 1, and to evaluate the effect of ATA188 treatment on biological markers of disease activity in cerebral spinal fluid in part 2 in patients with primary progressive multiple sclerosis and secondary progressive multiple sclerosis. More.

ModernaTX, Inc. is sponsoring a study to evaluate long-term safety and clinical activity of mRNA-3927. Patients with propionic acidemia who have previously participated in this study will have the option to enroll into this extension study provided all eligibility criteria have been met. Estimated enrollment is 36 participants. More.

Galderma is sponsoring a study to assess the efficacy and safety of the investigational drug nemolizumab in patients with prurigo nodularis (PN). The primary objective of this research study is to evaluate the efficacy of nemolizumab on clearance of PN lesions and on itch reduction. Additional objectives are to demonstrate the efficacy of nemolizumab on sleep disturbance and improvement of health-related quality of life in PN patients. More.

Incyte Corporation is sponsoring a study to evaluate the safety and efficacy of INCB054707 in patients with prurigo nodularis over a 16-week double-blind placebo-controlled treatment period, followed by a 24-week single blind extension period. Estimated enrollment is 140 participants. More.

Kiniksa Pharmaceuticals, Ltd. is sponsoring a phase 2a/b randomized, double-blind, placebo-controlled study to investigate the efficacy, safety, tolerability, pharmacokinetics and immunogenicity of vixarelimab administered subcutaneously in patients with prurigo nodularis experiencing pruritus (itching). More.

Regeneron Pharmaceuticals is sponsoring a study to demonstrate the efficacy of dupilumab on itch response in patients with prurigo nodularis (PN) who are inadequately controlled on topical prescription therapy or when those therapies are not advisable. Additional objectives are to demonstrate the efficacy of dupilumab on additional itch endpoints in patients with PN who are inadequately controlled on topical prescription therapy or when those therapies are not advisable; demonstrate efficacy of dupilumab on skin lesions of PN; demonstrate improvement in health-related quality of life; evaluate safety outcome measures; and evaluate immunogenicity of dupilumab. More.

Janssen Pharmaceuticals is sponsoring a study to determine if a 75 mg dose of macitentan is superior to a 10 mg dose in prolonging the time to the first clinical events committee -adjudicated morbidity or mortality event in patients with symptomatic PAH. More.

Janssen Pharmaceuticals is sponsoring a study to determine the efficacy and safety of a fixed-dose combination of macitentan and tadalafil compared to therapy with 10 mg of macitentan alone or 40 mg of tadalafil alone in treating patients with PAH. More.

Actelion Pharmaceuticals is sponsoring a study to evaluate whether the addition of selexipag to standard of care treatment delays disease progression in children with PAH in comparison to placebo. More.

Actelion Pharmaceuticals is sponsoring a study to investigate whether selexipag could be helpful in treating patients with sarcoidosis-associated pulmonary hypertension. More.

Janssen Pharmaceuticals is sponsoring a study to describe the time to death from any cause and time to death due to pulmonary arterial hypertension (PAH) or first hospitalization due to PAH in patients with PAH. The primary data source for this study will be the medical records of each participant. More.

The University of Florida is sponsoring a phase 3 trial in collaboration with Columbia University, Medosome Biotec LLC, and Saol Therapeutics, of the investigational drug dichloroacetate to treat young children with PDCD. More.

Agios Pharmaceuticals, Inc. is conducting a study to evaluate the efficacy and safety of orally administered AG-348 as compared with placebo in participants with PKD who are not regularly receiving blood transfusions. For more information visit ClinicalTrials.gov:NCT03548220

Agios Pharmaceuticals, Inc. is conducting a multicenter study designed to evaluate the efficacy and safety of treatment with AG-348 in a minimum of 20, with up to 40 patients with PKD who are regularly receiving blood transfusions. For more information visit ClinicalTrials.gov:NCT03559699

The National Cancer Institute is conducting a study to determine if the molecule M7824 is effective for the treatment of recurrent respiratory papillomatosis. More.

Blueprint Medicines Corporation is sponsoring a phase 1and 2, open-label, first-in-human study designed to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and preliminary antineoplastic activity of pralsetinib (BLU-667) administered orally in patients with medullary thyroid cancer, RET-altered non-small cell lung cancer and other RET-altered solid tumors. More.

ACADIA Pharmaceuticals Inc. is sponsoring a study to investigate the efficacy of treatment with oral trofinetide versus placebo in females with Rett syndrome. More.

ACADIA Pharmaceuticals Inc. is sponsoring a study to investigate the safety and tolerability of long-term treatment with oral trofinetide in girls and women with Rett syndrome. More.

The Worldwide Sarcoidosis Research Study (WISE) is designed to gain more information about the characteristics and clinical course of sarcoidosis in order to help physicians and researchers better understand how to treat the disease. Researchers at the University of Iowa Institute for Clinical and Translational Science will be gathering information from a large number of sarcoidosis patients located all around the world using a web-based survey. For more information, visit ClinicalTrials.gov:NCT01610843

Neurocrine Biosciences is sponsoring a phase 2 study to assess the efficacy, safety and pharmacokinetics of NBI-921352 as adjunctive therapy for seizures in patients with SCN8A-DEE. Estimated enrollment is 52 participants. More.

X4 Pharmaceuticals is sponsoring a phase 1b study to determine the safety and tolerability of mavorixafor in patients with severe chronic idiopathic neutropenia and selected congenital neutropenia disorders. The anticipated enrollment is up to 45 participants. More.

VectivBio AG is sponsoring an international, multicenter, double-blind, randomized, placebo-controlled trial to evaluate the safety and efficacy of apraglutide as a treatment for adult patients with SBS-IF. More.

Seton Hall University is conducting a study to help understand how a mobile health technology app can assist adolescents and young adults with SCD with their transition to adult care and help them manage the disease as adults. Individuals with SCD age 18-30 are invited to participate in a short anonymous survey: https://www.surveymonkey.com/r/YHKHS8L

Genentech, Inc. is conducting a phase 1b randomized study to evaluate the safety, pharmacokinetics, pharmacodynamics and efficacy of crovalimab for the management of acute uncomplicated vaso-occlusive episodes (VOE) in patients with SCD. More.

Genentech, Inc. is conducting a phase 2a randomized, double-blind study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of crovalimab as adjunct treatment in prevention of vaso-occlusive episodes (VOE) in SCD. More.

Biogen, Inc. is sponsoring a study to examine the clinical efficacy, safety and tolerability of nusinersen administered intrathecally at higher doses to patients with SMA. More.

Biogen, Inc. is sponsoring a study to evaluate the clinical outcomes, safety and tolerability following treatment with nusinersen in patients with SMA who have previously received onasemnogene abeparvovec. More.

Biohaven Pharmaceuticals is conducting a 48-week phase 3 clinical study to determine if troriluzole can slow down and improve symptoms in subjects with hereditary spinocerebellar ataxia. (SCA). The study will focus mainly on disease-types SCA1 and SCA2. For more information, visit ClinicalTrials.gov:NCT03701399

Sobi is conducting a Phase III clinical trial to assess the efficacy and to evaluate the safety, pharmacokinetics (PK) and immunogenicity of anakinra in patients with newly diagnosed Still’s disease, including SJIA (Systemic juvenile idiopathic arthritis) and AOSD (Adult-onset Still’s disease). For more information visit ClinicalTrials.Gov:NCT03265132

Deciphera Pharmaceuticals LLC is sponsoring a multicenter, randomized, placebo-controlled, double-blind, phase 3 clinical study to evaluate the safety and efficacy of an investigational drug, vimseltinib for the treatment of TGCT in patients where surgical removal is not an option. More.

Deciphera Pharmaceuticals LLC is conducting a multicenter, open-label phase 1/2 study of DCC-3014 in patients with malignant solid tumors and TGCT. Phase 1 (dose escalation) will enroll both malignant solid tumor and TGCT patients. Phase 2 (expansion) will comprise two cohorts and will only enroll TGCT patients. More.

Modis Therapeutics, Inc. and Zogenix, Inc. are sponsoring a study to evaluate the efficacy and safety of MT1621 in patients with genetic confirmation of TK2d who have never received MT1621 or nucleos(t)ides before entering the study. More.

The University of Texas Southwestern Medical Center is conducting a study to assess the current state of pediatric transverse myelitis (including AFM or acute flaccid myelitis) in terms of diagnosis, treatment and outcomes. More.

Promentis Pharmaceuticals, Inc. is conducting study is to explore the safety, tolerability and activity of SXC-2023 when dosed for 6 weeks versus placebo in adult patients with moderate to severe trichotillomania. For more information, visit ClinicalTrials.gov:NCT03797521

A study is enrolling children (< 18 years old) diagnosed with severe von Willebrand disease (VWD). This study will evaluate the use of recombinant von Willebrand Factor (rVWF), with or without ADVATE, in the treatment and control of bleeding episodes. For more information, visit: ClinicalTrials.gov – NCT02932618

X4 Pharmaceuticals is sponsoring a study is to establish a pharmacologically active dose of mavorixafor in combination with ibrutinib based on pooled safety, clinical response, pharmacokinetic and pharmacodynamic data to select the recommended dose for a randomized registrations trial. Patients with Waldenstrom’s macroglobulinemia whose tumors express mutations in MYD88 and CXCR4 genes are eligible. More.

Cellectar Biosciences, Inc. is sponsoring a two-part study in patients with Waldenstrom macroglobulinemia (WM). Part A evaluates CLR 131 in patients with select B-cell malignancies, including WM, who have been previously treated with standard therapy. Part B evaluates IV administration of CLR 131 in patients with WM who have received at least two prior lines of therapy. The estimated enrollment for this study is 120 participants. More.

Incyte Corporation is sponsoring a study to evaluate the safety and efficacy of parsclisib compared with placebo in patients with primary wAIHA. Estimated enrollment is 100 participants. More.

Janssen Research & Development, LLC is sponsoring a study to evaluate the efficacy and safety of M281 in patients with warm autoimmune hemolytic anemia. Estimated enrollment is 111 participants. More.

X4 Pharmaceuticals is sponsoring  a double-blind, placebo-controlled study with a randomized period and an open-label extension period. The primary objective of the randomized period is to demonstrate the efficacy of mavorixafor in participants with WHIM syndrome as assessed by increasing levels of circulating neutrophils compared with placebo, and relative to a clinically meaningful threshold. The primary objective of the open-label period is to evaluate the safety and tolerability of mavorixafor in participants with WHIM syndrome. More.

AGTC is currently conducting a clinical study to evaluate the safety and efficacy of an investigational gene therapy in patients with XLRS. If you are eligible to join the study and choose to participate, all study-related treatment costs and medical testing will be provided at no charge. Compensation for your time and travel expenses may also be provided. More.