Find Clinical Trials & Research Studies

Recursion Pharmaceuticals Inc. is sponsoring a phase 2, multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety, efficacy and pharmacokinetics of REC-4481 in treating patients with FAP.

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.

Regeneron Pharmaceuticals is sponsoring a phase 3, randomized, placebo-controlled, randomized study to evaluate the safety, tolerability, and efficacy of garetosmab in patients with FOP.

ChemoCentryx is conducting a study to evaluate the effect of treatment with CCX140-B, a selective antagonist of C-C chemokine receptor type 2 in patients with FSGS on urinary protein excretion as assessed by changes in urine protein to creatinine ratio (UPCR). For more information visit:

The University of Illinois at Urbana-Champaign is conducting a study about predictors of early language development in toddlers with fragile X syndrome. The study has been approved by the National Fragile X Foundation and more information is available on their website. 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.

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: https://ndl.northwestern.edu/  ;

Harmony Biosciences is sponsoring a Phase III clinical trial to evaluate the effectiveness and safety of ZYN002, a clear cannabidiol gel applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X syndrome (FXS). Eligible participants will participate in up to an 18-week study treatment period, where all participants will receive placebo or active study drug. Patients ages 3 to 22 years, will be eligible to participate if they meet all entry criteria. ZYN002, is the first and only investigational pharmaceutically-produced cannabidiol, a non-psychoactive cannabinoid, formulated as a patent-protected permeation-enhanced gel for transdermal delivery through the skin and into the circulatory system. ZYN002 is being developed for patients suffering from Fragile X syndrome and certain refractory epilepsies, 22Q deletion syndrome, and autism spectrum disorder (ASD). ZYN002 is an experimental treatment.

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

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.

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.

The ECOG-ACRIN Cancer Research Group is conducting a phase II/III study to compare the effect of adding chemotherapy before and after surgery versus after surgery alone (usual treatment) in treating patients with stage II-III gallbladder cancer.

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.

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.

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.

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.

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:

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.

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:

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:

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).

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.

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.

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.

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.

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.

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:

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.

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:

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.

The National Cancer Institute is conducting a phase 2 study to compare the effects of adding bevacizumab and atezolizumab to gemcitabine and cisplatin (chemotherapy) versus chemotherapy and atezolizumab in treating patients with combined hepatocellular carcinoma-cholangiocarcinoma that cannot be removed by surgery or that may have spread from where it first started.

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 ).

Astria Therapeutics, Inc. is sponsoring a non-randomized, phase 1b/2 single and multiple dose study to evaluate the safety, tolerability, clinical activity, pharmacokinetics, pharmacodynamics, and immunogenicity of STAR-0215 in patients with hereditary angioedema.

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.

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.

GlaxoSmithKline is sponsoring a study to investigate the efficacy and safety of depemokimab in adults with uncontrolled HES.

GlaxoSmithKline is sponsoring a study to investigate the efficacy and safety of mepolizumab in children and adolescents with HES who are between 6 and 17 years of age.

Shire is conducting the PARADIGHM™ global natural history registry to learn more about hypoparathyroidism under conditions of normal clinical practice.

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

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:

Amolyt Pharma is sponsoring a phase 3, multicenter, randomized, placebo-controlled, double-blind study to evaluate the safety and efficacy of eneboparatide, a parathyroid hormone receptor agonist, in treating patients with chronic hypoparathyroidism. 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.

Zevra Therapeutics is sponsoring a study to evaluate the safety, efficacy and pharmacokinetics of serdexmethylphenidate compared to placebo in patients with idiopathic hypersomnia.

Janssen Research & Development, LLC is sponsoring a phase 2, multicenter, randomized, double-blind, placebo-controlled, parallel-group study to evaluate the safety and efficacy of Nipocalimab in patients with active idiopathic inflammatory myopathies.

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

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.

Alexion Pharmaceuticals, Inc. is sponsoring a study to evaluate evaluate the efficacy and safety of ALXN2050 in adult participants with proliferative lupus nephritis (LN) or immunoglobulin A nephropathy (IgAN).

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 

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.

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.

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.

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.

Boston Children’s Hospital and Redenlab are conducting a study to explore speech and language pattern in individuals with Kabuki syndrome. The goal is to identify unique speech and language features that may be used as outcome measures for future clinical trials. Individuals with genetically confirmed Kabuki syndrome of any age and the ability to follow simple instructions (e.g., repeat a vowel or words) are eligible to participate. Speech tasks will be provided and recorded through a unique weblink on your personal device (computer or tablet) in the convenience of your home. Tasks can be done at your own pace and typically take no longer than 30 minutes. Contact for more information and instructions about participating: Leen Khalife, MD or Olaf Bodamer, MD, PhD: 857-218-5253 or Email: [email protected]

Boston Children’s Hospital is conducting a study to better understand causes of death in Kabuki syndrome. Participation will include review of your child’s past medical record and a 60-minute interview through zoom or phone call. Contact for more information: Leen Khalife, MD: 857-218-5253 or Email: [email protected]

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.

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.

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.

PTC Therapeutics is sponsoring a study to compare the efficacy and safety of unesbulin plus dacarbazine versus placebo plus dacarbazine in patients with unresectable or metastatic, relapsed or refractory LMS who have received at least 1 prior line of systemic therapy.

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.

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.

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.

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.

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

Cabaletta Bio is conducting a phase 1/2 clinical trial (RESET-SLE^TM) to evaluate the effects of the investigational cell treatment CABA-201 for the treatment of systemic lupus erythematosus (SLE) in patients with active lupus nephritis (LN) or active SLE without renal involvement.

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.

Alexion Pharmaceuticals, Inc. is sponsoring a study to evaluate evaluate the efficacy and safety of ALXN2050 in adult participants with proliferative lupus nephritis (LN) or immunoglobulin A nephropathy (IgAN).

Ono Pharmaceutical Co. Ltd is sponsoring a non-randomized, open-label, phase 2 study to evaluate the safety, efficacy, and pharmacokinetics of tirabrutinib in patients with primary central nervous system lymphoma (PCNSL).

Ono Pharmaceutical Co. Ltd is sponsoring a study to investigate the safety, tolerability, pharmacokinetics and preliminary efficacy of ONO-4685 in patients with relapsed or refractory T cell lymphoma.

The University of California, San Francisco is collaborating with Duke University on a study to determine maternal and fetal safety and feasibility of prenatal enzyme replacement therapy in fetuses with LSDs.

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.

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.

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).

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.