Find Clinical Trials & Research Studies

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.

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.

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.

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.

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.

Rare Thyroid Therapeutics International AB is sponsoring a phase 3, double-blind, randomized, multicenter, placebo-controlled study of male patients with MCT8 deficiency to determine if removal of tiratricol will lead to an increase of serum total T3 concentration compared to those who continue to receive tiratricol.

Rare Thyroid Therapeutics International AB is sponsoring an expanded access program to tiratricol as a treatment option in the U.S. for eligible patients with MCT8 deficiency.

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.

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.

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.

Genentech, Inc. is sponsoring a study to evaluate the safety, efficacy, tolerability, pharmacokinetics and pharmacodynamic effects of ocrelizumab in pediatric and adolescent patients with relapsing-remitting multiple sclerosis.

Genentech, Inc. is sponsoring a phase 3 study to evaluate the safety and efficacy of ocrelizumab in comparison with fingolimod in pediatric and adolescent patients with relapsing-remitting multiple sclerosis.

Ono Pharmaceutical Co. Ltd is sponsoring a phase 2, double-blind, parallel-group, placebo-controlled study to assess the safety, tolerability, pharmacokinetics, pharmacodynamics and efficacy of multiple doses of ONO-2808 in patients with multiple system atrophy.

Catalyst Pharmaceuticals is conducting a randomized, double-blind, placebo-controlled, parallel group study designed to evaluate the safety, tolerability and efficacy of amifampridine phosphate in patients with MuSK-MG.  In addition, a sample of AChR-MG patients will be assessed for efficacy and safety of amifampridine phosphate.  Planned duration of participation for each patient is at least 38 days, excluding the screening period.  Eligible patients will be titrated to an efficacious dose of amifampridine phosphate and those who demonstrate improvement will be randomized to either placebo or amifampridine, in a double-blind fashion, for 10 days.

NORD offers financial support for study-related expenses and concierge travel arrangements to patients participating in Catalyst Approved MuSK-002 Clinical Study with Amifampridine Phosphate through its RareCare Program.

Janssen Research & Development is sponsoring an open-label, uncontrolled, multicenter study to evaluate the pharmacokinetics, pharmacodynamics, safety, and efficacy of nipocalimab in treating children between the ages of two and eighteen years old with generalized myasthenia gravis.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

The Division of Genetics and Genomic Medicine at Washington University School of Medicine in St. Louis is conducting a study to determine if adrabetadex (VTS-270) administered intravenously is effective in treating acute liver disease in infants with NPC. Learn more about the Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C on ClinicalTrials.gov and from Laura Linneman, RN, Manager Clinical Trials, Pediatric Newborn Medicine at 314-454-4950 (office) or 314-706-3300 (cell).

Bristol-Myers Squibb is sponsoring a phase 3 study in adolescents with symptomatic obstructive hypertrophic cardiomyopathy (HCM).

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.

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

Arcturus Therapeutics, Inc. is sponsoring a phase 1b, randomized, double-blind, placebo-controlled, single ascending dose study to evaluate the safety, efficacy, tolerability and pharmacokinetics of ARCT-810 in clinically stable patients with ornithine transcarbamylase deficiency.

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.

Novartis Pharmaceuticals is sponsoring a study to evaluate the full spectrum of symptoms, treatment utilization, and overall Health-Related Quality of Life (HROoL) experienced by patients with Paroxysmal Nocturnal Hemoglobinuria (PNH). The study seeks to establish a new real-world data (RWD) source to better understand symptom variably and HROoL among patients with PNH.

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.

Amryt Pharma is sponsoring a phase 3, randomized, multicenter, double-blind, placebo-controlled study to evaluate the safety and efficacy of daily subcutaneous metreleptin in treating patients with PL.

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.

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.

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.

Protagonist Therapeutics, Inc.is sponsoring a randomized, double-blind, open-label, phase 3 study to evaluate the safety and efficacy of rusfertide in patients with PV in maintaining hematocrit control and in improving symptoms.

PharmaEssentia is sponsoring a phase 3, randomized, open-label, multicenter study to evaluate the safety, tolerability and efficacy of ropeginterferon alfa-2b-njft (P1101) in adult patients with PV.

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.

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.

Atara Biotherapeutics  is conducting a multicenter, open-label, single-arm phase 3 study to assess the efficacy and safety of tabelecleucel for the treatment of Epstein-Barr Virus-associated post-transplant lymphoproliferative disease (EBV+ PTLD) in the setting of solid organ transplant (SOT) after failure of rituximab or rituximab plus chemotherapy.

Acadia Pharmaceuticals, Inc. is sponsoring a 12-week, randomized, double-blind, placebo-controlled, parallel-group study of carbetocin nasal spray for the treatment of extreme hunger (hyperphagia) in patients with Prader-Willi syndrome.  

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.

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.

Escient Pharmaceuticals, Inc. is sponsoring the PACIFIC study, a phase 2 trial to evaluate the effects of EP547 in patients with cholestatic pruritus (itching) due to primary biliary cholangitis or primary sclerosing cholangitis.

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.

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.

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

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.

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.

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.

Reneo Pharma Ltd is sponsoring a phase 2, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of a 24-week treatment with REN001 in patients with primary mitochondrial myopathy.

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. 

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.

ModernaTX, Inc. is sponsoring a global, phase 1/2, open-label, dose optimization study to evaluate the safety, pharmacodynamics and pharmacokinetics of mRNA-3927 in patients with propionic acidemia.

Arkansas Children’s Hospital Urology Division is conducting a study to help better understand the long term surgical and medical outcomes of females with prune bell syndrome, also known as Eagle-Barrett syndrome. Female patients and caregivers of female patients are eligible to complete this survey.

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.

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.

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).

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.

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.

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.

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.

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.

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

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.

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

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.

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.

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.

X4 Pharmaceuticals is sponsoring a phase 1b/2, open-label, multicenter study to evaluate the safety, tolerability, and efficacy of mavorixafor in treating patients with congenital neutropenia and chronic neutropenia disorders.