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Information on Clinical Trials and Research Studies

NORD shares information about opportunities to participate in clinical trials and other studies so that patients and their physicians may decide whether specific studies are appropriate for them. We do not endorse or recommend participation in any specific clinical trials or studies. The following is a brief sampling of current clinical trials listed at www.clinicaltrials.gov. For additional information about clinical trials, go to https://www.trialstoday.org/.

Information on Clinical Trials and Research Studies

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To learn more about clinical trials, why they matter and how to participate visit:

Current Clinical Trials & Studies

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.

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

A study is in progress to see if Cinryze® given for the treatment of acute antibody-mediated rejection (AMR) in patients with kidney transplant is effective.  Patients who are at least 18 years old, have received a kidney transplant, and have experienced a first episode of AMR within 12 months after transplant may be eligible to participate. For more information, visit: ClinicalTrials.gov – NCT02547220

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.

Catalyst Pharmaceuticals, Inc. is sponsoring a randomized, double-blind, controlled, outpatient two-period, two-treatment crossover study is designed to evaluate the efficacy and safety of amifampridine phosphate in patients (ages 2 to 70) diagnosed with certain genetic subtypes of CMS and demonstrated open label (amifampridine phosphate) or history of sustained amifampridine benefit from treatment.For more information visit ClinicalTrials.gov: NCT02562066

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.

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  

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.

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

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; Emailfamilystudy@northwestern.edu; Website: http://ndl.northwestern.edu/  Interested in participating- click here!

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

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

 

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 rlewis@bcm.edu.

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

 

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

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

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.

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

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.

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 dhayes2@northwell.edu (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

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

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

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.

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

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. More.
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. 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.

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.

Retrophin, 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.

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

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

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

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.

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

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.