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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

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

The MPOWERED clinical study sponsored by Chiasma, Inc. is being conducted to compare the safety and effectiveness of an investigational product, oral octreotide capsules, to existing injectable medications (octreotide and lanreotide) for the maintenance treatment of acromegaly. 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.

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: –  NCT02722304

A study is enrolling adults diagnosed with A1PI deficiency and emphysema. This study will evaluate the use of GLASSIA in patients with A1PI and emphysema.  For more information, visit: – NCT02525861

Regulus Therapeutics Inc is conducting a research project investigating the investigational drug RG-012. HERA (RG012-03) is a Phase II study designed to evaluate the safety and effectiveness (improvement in kidney function) of RG-012 compared to placebo in patients with Alport syndrome. In-home visits will be available. More information here.

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: – NCT02547220

Eli Lilly and Company is enrolling patients with autoinflammatory syndromes in a compassionate use protocol. This includes individuals with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), juvenile dermatomyositis (JDM), and stimulator of interferon genes (STING)-associated vasculitis with onset in infancy (SAVI). For more information visit, National Institutes of Health and NCT01724580.

Scientists at Stony Brook University are conducting a research study to understand people’s experiences with chronic illness. This anonymous, online questionnaire welcomes any adult who has a chronic illness to participate. The questionnaire is anonymous and voluntary and takes approximately 30 to 60 minutes to complete. Complete the survey here.

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 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.

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 NCT01500447 and NCT01511588.

Zogenix, Inc. is sponsoring a multicenter, double-blind, parallel-group, placebo-controlled study to assess the efficacy, safety, and pharmacokinetics of ZX008 when used as adjunctive therapy for uncontrolled seizures in children and young adults with Dravet syndrome. For more information visit

Cortendo AB is sponsoring a study to test the safety and efficacy of COR-003 in the treatment of endogenous Cushing’s syndrome. This study is open-label, which means both the health providers and the participants in the study are aware of the drug or treatment being given. Information from this study will also help doctors learn more about COR-003 in treating endogenous Cushing’s syndrome. More.

The ORBIT 1 study is examining whether an investigational medication called budesonide oral suspension (BOS) is effective in treating eosinophilic esophagitis (EoE). Patients between 11 and 55 years old who have EoE (or suspected EoE) may be eligible to participate. For more information, visit:

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;; Website:  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: – 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: – 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

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: – NCT02615691


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 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: – 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 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,

Catalyst Pharmaceutical Partners, Inc. is sponsoring an expanded access program to provide patients with LEMS/CMS/DN access to amifampridine phosphate therapy when prescribed by a physician, and to assess the long-term safety of amifampridine phosphate in these patients. Affected individuals who are 10 years of age or older may be eligible. For more information visit NCT02189720.

Catalyst Pharmaceuticals, Inc. is sponsoring an interventional study to evaluate the effect of withdrawing amifampridine phosphate treatment from patients with LEMS. One half of the patients will continue to receive amifampridine phosphate and the other half will receive placebo, during this double-blind study. For more information visit

Adult patients with lipoprotein lipase deficiency (LPLD) in the US and Canada may be eligible for a study of alipogene tiparvovec being conducted by uniQure. LPLD is a rare, autosomal recessive disorder of lipid metabolism. Individuals with LPLD have elevated triglyceride levels and may manifest clinical symptoms such as plasma lipemia, lipemia retinalis, eruptive xanthomas, and recurrent acute pancreatitis. For more information visit:

Researchers at Massachusetts General Hospital are conducting a survey of patients with lysosomal storage diseases to investigate their perceptions of treatment and opinions about enzyme replacement therapy. Access the survey.

Researchers at Northwester University are recruiting participants to take a survey which aims to learn more about quality of life with MEN-2. Complete the survey here.

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 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.

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.

The MTM Genetic Testing Study is being conducted by the Congenital Muscle Disease International Registry (CMDIR) in collaboration with other groups and is funded by Valerion Therapeutics.  The purpose of this study is to provide genetic testing to those children and adults who have symptoms of X-linked MTM and a muscle biopsy that confirms a centronuclear myopathy who have either not had genetic testing or have had genetic testing that came back negative.   For more information visit NCT01817946 and

Alexion Pharmaceuticals is conducting a double blind placebo controlled clinical trial to determine if eculizumab can prevent relapses in patients with relapsing neuromyelitis optica (NMO). Participants must be at least 18 years old, have a positive test for the NMO IgG antibody, and have experienced 2-3 relapses in the last 2 years with at least one relapse in the last 12 months. Participants are permitted to continue present NMO medications. Participants remain in the study until it is over, in about 2 years or until a relapse occurs. For more information visit NCT01892345


Genentech has announced the initiation of a Phase III, randomized, double-blind, double-dummy, active-comparator, multicenter, international study to evaluate the efficacy and safety of Rituxan compared to mycophenolate mofetil in patients with moderate-to-severely active pemphigus vulgaris (PV). Patients in the Rituxan arm of the study will receive 1000mg rituximab given by intravenous infusion on Day 1 and 15, with repeat rituximab administration on Day 168 and 182 provided specific safety criteria have been met. For more information

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 Identifier: NCT01410890.

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

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.

Boston Children’s Hospital is conducting a study investigating whether a behavioral intervention can improve social communication skills in infants with TSC, with the overarching goal of lessening symptomatology related to ASD. Research has shown that early intervention improves cognitive and behavioral outcomes in children with atypical development. The proposed intervention adapts a parent-mediated intervention that has successfully improved outcomes in toddlers with idiopathic ASD.  In addition to testing the primary effects of this early intervention on developmental outcomes of infants with TSC, we also will use electrophysiological (EEG) methods to examine low level visual processing, face processing, and resting state EEG oscillations prior to and after intervention. For more information on this study, please visit: or email

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: – 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.