You are here: Home / For Patients & Families / News About Clinical Trials

News About Clinical Trials

NORD shares information about opportunities to participate in clinical trials 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.

The following is a brief sampling of current studies. For more comprehensive information about opportunities to participate in research, go to

Alkaptonuria (AKU)

The developAKUre clinical study is evaluating the safety and efficacy of a new drug, Nitisinone, for patients with AKU. Clinical trial participants may be from anywhere in Europe (excluding United Kingdom) and must be aged 25 or over with a diagnosis of AKU and documented increase in urine or plasma HGA. Patients must be able to travel to be seen at the Liverpool Centre for AKU, UK (expenses will be covered). To receive further information, please contact and reference ‘developAKUre’.

Alkaptonuria (AKU)

AKU patients from the UK and Europe are being sought for participation in the SONIA 2 trial that will assess the long-term suitability of nitisinone for use in AKU patients. More.

Anaplastic Thyroid Cancer

For patients with advanced anaplastic thyroid cancer, Plexxikon is sponsoring a clinical trial of an oral investigational drug targeting the cancer microenvironment (cells recruited by the cancer that promote its growth and invasion). The investigational drug PLX3397 specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to Identifier: NCT01004861.

Antiphospholipid Syndrome (APS)

Alexion Pharmaceuticals conducting a study to evaluate the safety and tolerability of intravenous (IV) ALXN1007 in persistently antiphospholipid (aPL)-positive patients with at least 1 of the following non-criteria manifestations of APS: aPL-nephropathy, skin ulcers and/or thrombocytopenia. Travel arrangements and support are available. More.

Autoinflammatory Syndromes

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, please go to the following websites, National Institutes of Health or

Autosomal Dominant Hypocalcemia

NPS Pharmaceuticals, Inc. has initiated a phase 2a study to evaluate the safety and tolerability of NPSP795 in adult patients with autosomal dominant hypocalcemia. For more information, visit Identifier:NCT02204579.

Chronic Thromboembolic Pulmonary Hypertension (CTEPH)

Bayer HealthCare Pharmaceuticals is sponsoring a Phase IIIb, open-label, single-arm, clinical trial to provide access to riociguat for patients with inoperable Chronic Thromboembolic Pulmonary Hypertension (CTEPH), or recurrent or persisting Pulmonary Hypertension (PH) after surgical treatment that are not satisfactorily treated or cannot participate in any other CTEPH trial. The study will also evaluate the safety, tolerability and clinical effects of riociguat. Patients must be between 18 to 80 years of age at screening and fulfill other eligibility criteria, including an operability assessment. Treatment with riociguat, phosphodiesterase type 5 (PDE5) inhibitors, ERA or prostanoid within 3 days prior to start of riociguat is not allowed. For more information, please go to and use the following identifier: NCT01784562.

Collagen Type 6 Congenital Muscular Dystrophy

Children ages 5 to 20 with Collagen VI-CMD are being sought for a research study to measure the effect of a new type of breathing treatment to stretch the chest and slow the loss of breathing function. For more information visit identifier: NCT01004861>

Congenital Adrenal Hyperplasia (CAH)

The National Institute of Child Health and Human Development is sponsoring a study to compare the effectiveness of a cortisol pump with standard cortisol pill therapy for adults with classic CAH. More.


Researchers at the University of California, Irvine Medical Center, are studying the causes of craniosynostosis with the ultimate goal of identifying genes and environmental factors causing this condition. They are recruiting families with at least one child with craniosynostosis. For information, contact Dr. Virginia Kimonis, MD (; 949 824 0571 or fax: 714 456 5330) or research coordinator Dr. June-Anne Gold ( or 949 824-0521).

Disorders of Puberty and Reproduction

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. More information is available at identifier: NCT01500447 and Identifier: NCT01511588 or by contacting

Fibrodysplasia Ossificans Progressiva (FOP)

Clementia Pharmaceuticals, Inc. has initiated a double-blind, placebo-controlled phase 2 clinical trial to evaluate the effect of different doses of palovarotene on new bone formation during and after a flare-up in 24 patients with FOP who are 15 years of age or older. For more information, please go to

Fibromuscular Dysplasia (FMD)

The Fibromuscular Dysplasia Society of America is collaborating with the Cleveland Clinic and Mayo Clinic on a research study to identify genetic factors that may influence susceptibility to certain vascular diseases like FMD. The objectives are to find new methods for prevention, diagnosis and treatment, and investigate the prevalence of traditional cardiovascular risk factors in individuals and family members with FMD. Patients with FMD and their first-degree family members (such as parents, siblings, and adult children) may volunteer to participate. Participation will involve giving consent, completing a medical questionnaire, and collecting a blood sample. If you wish to obtain more information about this study please feel free to contact

Fragile X Syndrome

The University of North Carolina at Chapel Hill and Washington University in St. Louis are currently recruiting for a study of Fragile X and brain development in infants with Fragile X. They are looking for children under the age of 12 months who are suspected of having Fragile X (parents who are expecting may also be eligible.) and need 30 participants in the US who meet the following criteria: 1) Are under 12 months of age (parents who are expecting may also be eligible) and 2) Have diagnosis of Fragile X (full or premutation) or are suspected of having Fragile X or have an older sibling with Fragile X. For more information visit

Freeman-Sheldon and Related Syndromes

The Freeman-Sheldon Research Group, Inc. is seeking participants for three studies to: (1) survey and review medical records for information about specific treatments and major problems in patients' medical history; (2) medically evaluate patients', their families', and other affected individuals' (who have spent considerable time with patients) to learn about quality of life and mental health issues relating to these syndromes; and (3) medically evaluate healthy persons and patients to compare their bodies' functioning. These studies are each designed to form a basis for improving the standard of care and developing new treatments. Persons with Freeman-Sheldon syndrome, Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 are eligible for all studies. For more information, contact the study coordinator, Maria Patterson ( or 443-694-0057); research assistant, MI Poling ( or 304- 460-9038); or lead researcher, RJ McCormick ( or 304-472-0318); or visit the following websites:, identifier: NCT01144741, identifier: NCT01307475, and identifier: NCT01306994

Hereditary Inclusion Body Myopathy (HIBM)

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. More or visit Identifier: NCT01417533.

Hirschsprung Disease

Dr. Aravinda Chakravarti’s laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.

We ask study volunteers to complete a medical/family history questionnaire, provide access to some medical records, and to submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available). If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you. For more information please contact the study coordinator, Courtney Berrios, at 410-502-7541 or or visit


In 2013, NPS Pharma embarked on a long-term initiative to characterize the impact of hypoparathyroidism by enrolling the first patient in PARADIGHM™. This global natural history registry will follow patients for at least 10 years to learn more about hypoparathyroidism under conditions of normal clinical practice. The goal of PARADIGHM™ is to create a comprehensive database that builds understanding of the nature of hypoparathyroidism and its burden, so that the unmet needs of patients may ultimately be better addressed. The registry is designed to help healthcare practitioners better understand the variability, progression and natural history of the disorder. For more information and guidance for enrolling patients into PARADIGHM™, visit or identifier: NCT01922440.

Idiopathic Diseases of Man (IDIOM)

The IDIOM study at the Scripps Translational Science Institute is investigating rare undiagnosed diseases using whole genome sequencing. Individuals with a serious, debilitating condition, whose parents are also available for testing, may be eligible. More.

Idiopathic Pulmonary Fibrosis (IPF)

Bayer HealthCare Pharmaceuticals is sponsoring a Phase II randomized, double-blind, placebo-controlled clinical trial to investigate the efficacy and safety of riociguat in patients with symptomatic pulmonary hypertension associated with idiopathic interstitial pneumonias including IPF. Patients must be between 18 to 80 years of age at screening and fulfill other eligibility criteria, including diagnosis of pulmonary hypertension confirmed by a right heart catheter. Please visit Identifier:NCT02138825.

Idiopathic Pulmonary Fibrosis

Boehringer Ingelheim Pharmaceuticals, Inc. has initiated an open-label, US multi-center expanded access program for its investigational compound nintedanib, for people diagnosed with idiopathic pulmonary fibrosis. For more information, visit Identifier: NCT02171156

Juvenile Batten Disease

The University of Rochester Batten Center is currently recruiting children and young adults nationwide to participate in a phase II clinical trial for juvenile neuronal ceroid lipofuscinosis (JNCL, Juvenile Batten Disease, CLN3 disease). The primary study goal is to determine whether mycophenolate mofetil (CellCept) at standard pediatric dosing is safe and well tolerated in children with JNCL. Referred participants must have a documented mutation in the CLN3 gene and be able to walk 10 feet independently. For more information contact: Erika Augustine, MD, MS (Principal Investigator) or Amy Vierhile, PNP (Study Coordinator) Phone: 585-275-4762. Identifier: NCT01399047.

Klinefelter’s Syndrome/47 XXY, Triple X Syndrome/Trisomy X/47 XXX, and 47 XYY

The Department of Experimental Psychology at the University of Oxford is seeking children ages 5-16 years with an extra sex chromosome who live in the UK to study language, reading and communication problems. The study involves a 2 hour assessment of reading, speaking, reasoning and language tasks at home or school; a test to measure blood flow in the two halves of the brain; a saliva sample from children and parents for DNA testing; and parental completion of 3 questionnaires about the child’s development. For more information contact: Louise Atkins at or +44(0)1865 271386.

Lambert Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS) and Downbeat Nystagmus (DN)

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. More. What is Expanded Access?

Metachromatic Leukodystrophy (MLD)

Shire is conducting a natural history study to assess the natural course of MLD in children under 12. In addition to gaining a better understanding of this disorder, the results from this study may help inform the development of a future treatment. This is a two-year study that requires approximately ten visits to the study location. Travel expenses to and from study-related appointments will be reimbursed by the study sponsor. Identifier: NCT01963650 Learn more.

Methylmalonic Acide mia (MMA)

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. Identifier: NCT00078078.

Myasthenia Gravis

Alexion Pharmaceuticals is conducting a 26 week double blind placebo controlled clinical trial to determine if eculizumab is an effective treatment for refractory myasthenia gravis (MG). Participants must have significant impairment of activities of daily living, be at least 18 years old, have a positive test for the AChR antibody, and must have been previously treated with at least two different medications or require IVIg or plasmapheresis. Participants are permitted to continue present MG medications. Identifier: NCT01997229.

Myotubular Myopathy

The MTM Genetic Testing Study will be conducted by the CMDIR in collaboration with other groups and is funded by Valerion Therapeutics. This study will provide important data for future clinical trials including (genetically confirmed) individuals affected with MTM. Participants for this study are being recruited now. Information about this study is also posted on under Ongoing Studies. To find out about your or your child’s eligibility to participate in the MTM Genetic Testing Study or to obtain more information, please contact the study coordinator at the CMDIR: Email: or Telephone: 424-265-0874 or visit identifier: NCT01817946. View a flyer about the program.

Myotubular Myopathy

Purpose: This study will look at health complications connected to your (or your child’s) muscle disease, in this study called an EVENT, such as emergency room visits/hospitalizations, a reaction to a medication or a complication from a medical procedure. This information will help doctors take care of children and adults with MTM and help researchers prepare for future clinical trials.

Participation: The study involves participation in one phone survey each month for one year (for a total of 12 surveys). The first phone call is expected to take 60 minutes and subsequent monthly phone calls, 25 minutes. Records related to diagnosis, birth and emergency room visits/hospitalizations will be collected. Eligibility: English-speaking males with a confirmed diagnosis of muscle biopsy consistent with myotubular myopathy and family history consistent with X-linked inheritance and/or genetic testing are invited to participate. Contact: Dr. Sabine de Chastonay MTM Event Study Coordinator Phone: (424) 265-0874 Email: Information about this study is also published on NCT 01840657.


The NF Registry is a patient-driven tool designed to speed recruitment for clinical trials. It is open to patients with NF1, NF2, or schwannomatosis. Parents of children with NF may register on their children’s behalf. Building this registry will benefit both NF research and the NF community. This Registry will review as many actively recruiting NF clinical trials or clinical research studies as possible. It will seek to match individual NF patients with the clinical trials most suitable for their particular characteristics. When a match is identified, the NF Registry will provide people who have agreed to be contacted with information about the study and how to contact the researchers. All personal information is confidential and is housed on a secure server in compliance with established HIPAA guidelines. It is administered by the Children’s Tumor Foundation in collaboration with PatientCrossroads. Access the registry.


The Washington University Neurofibromatosis (NF) Center has launched a unique internet-based NF Registry (NF1 Patient Registry Initiative) that will collect medical information to help physicians and researchers better understand the spectrum of medical problems found in children and adults with NF1. All individuals with a diagnosis of NF1 are eligible to complete the 30-minute online questionnaire. The information collected from the NF1 Registry will be used to better characterize the relationships between specific problems in NF1. In particular, researchers hope to better understand correlations between NF1 and cancer, heart problems, allergies, depression, and learning disabilities. The Washington University NF1 Registry will enable studies that aim to identify children and adults at greatest risk for specific medical problems in NF1. These studies may help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1. All information is housed on a secure server in compliance with established HIPAA guidelines. Access the registry.

Neuromyelitis Optica

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. identifier: NCT01892345

Partial or Generalized Epilepsy with Seizure Clusters

Upsher-Smith Laboratories, Inc is conducting the ARTEMIS1 (Acute Rescue Therapy in Epilepsy with Midazolam Intranasal Spray) study to evaluate the efficacy and safety of USL261, an investigational formulation of midazolam delivered intranasally, for the outpatient rescue treatment of seizure clusters. An informational website has been launched to provide information about this clinical trial including eligibility requirements. Identifier: NCT01390220.

Phenylketonuria (PKU)

Prism 301 is a clinical research study that is testing an experimental enzyme substitution therapy called PEG PAL as a potential new type of treatment for people with PKU. The Prism 301 study will be taking place at multiple locations across the US and is now enrolling study participants ages 18 to 70. Read more or go to Identifier: NCT01819727.

Pigmented Villonodular Synovitis (PVNS)

Pigmented villonodular synovitis (PVNS) is a chronic joint disease resulting from growth of the joint lining (synovium) that can form a tumorous mass that often recurs after surgery or radiation therapy. Genetic changes in tumor tissue can result in recruitment of cells that contribute to the tumorous mass. For patients with inoperable progressive or relapsing PVNS as well as demonstrated progressive disease in the last 12 months, Plexxikon is sponsoring a clinical trial of an oral investigational drug PLX3397 which specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to identifier: NCT01004861.

Pompe Disease (Late Onset)

BioMarin is currently seeking patients for a Phase 3 clinical trial in Late Onset Pompe Disease. This phase 3 study incorporates a switchover design in which all patients switch directly from Myozyme® or Lumizyme® 1to the experimental drug BMN 701 without missing doses, to determine if patients currently on enzyme replacement therapy with Myozyme® or Lumizyme® can improve more in measures of respiratory muscle strength, muscle weakness and endurance. (Myozyme and Lumizyme are registered trademarks of Genzyme, a Sanofi Company.) Identifier: NCT01924845

Travel Information: Patients will not be required to spend their own money for study related travel. The trial related travel costs, including hotels, car rentals/taxis, airfare/train fare, mileage, food and any other approved trial related expenses will be paid by BioMarin. Arrangements will also be made for special travel needs, such as wheelchair accessible taxis and hotel rooms as well as transportation through the airport terminal.

Pompe Disease (Late Onset)

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. Identifier: NCT01410890

Pulmonary Sarcoidosis

Individuals with stage II or stage III pulmonary sarcoidosis may be eligible to participate in a study to evaluate the effects of atorvastatin (Lipitor). This study will examine whether atorvastatin, a widely used cholesterol-lowering drug, may help patients with pulmonary sarcoidosis, replacing or reducing the need for steroids such as prednisone. This study is being conducted at the NIH Clinical Center in Bethesda, Md., and all participants will come to the Clinical Center. Travel assistance may be available. For information, call (866) 444-2214 (TTY: 866 411-1010) or go to identifier: NCT00279708.

Rett Syndrome

Dr. Sakkubai Naidu from the Pediatric Clinical Research Unit of the Johns Hopkins Hospital/Kennedy Krieger Institute is initiating a double blinded placebo controlled clinical drug trial using dextromethorphan (DM) in Rett Syndrome. This study is sponsored by the FDA and Johns Hopkins Institute for Clinical and Translational Research. It will be limited to MECP2 mutation-positive children, 1 year – 9.99 years of age, and last for 3 months. The purpose of this study is to determine if there are benefits of DM on cognition, behavior, or seizures if present. Read more. Identifier: NCT01520363.

Salivary Gland Mucoepidermoid Cancer (MEC)

Mucoepidermoid carcinoma (MEC) is the most common salivary gland cancer. For patients with MEC who are not candidates for curative surgery or radiation, Plexxikon is sponsoring a clinical trial of an oral investigational drug targeting the cancer microenvironment (cells recruited by the cancer that promote its growth and invasion). The investigational drug PLX3397 specifically reduces the activity of a key cell population known as tumor-associated macrophages. The purpose of the clinical trial is to assess the safety and activity of PLX3397 dosed by capsules twice a day. Patients must be at least 18 years old and fulfill other eligibility criteria. For more information and the location of clinical trial locations in the U.S., please go to Identifier: NCT01004861.


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 localed all around the world using a web-based survey. Identifier: NCT01610843.

Sickle Cell Disease

Mast Therapeutics, Inc. (NYSE MKT: MSTX) is currently conducting a pivotal phase 3 study of its lead product candidate MST-188 (purified poloxamer 188) for the treatment of sickle cell disease. The Evaluation of Purified 188 In Crisis (EPIC) study is a randomized, double-blind, two-arm, placebo-controlled study that will be conducted at approximately 40 sites in the U.S. and 30 sites outside the U.S. The primary objective is to demonstrate that MST-188 reduces the duration of vaso-occlusive crisis in patients with sickle cell disease. A total of 388 subjects ages 8 to 17 who have sickle cell disease and are experiencing acute pain typical of vaso-occlusive crisis will be enrolled. For more information about the EPIC study please visit identifier: NCT01737814.

Seizure Clusters

Upsher-Smith Laboratories, Inc. is sponsoring the ARTEMIS1 trial, which is enrolling eligible patients diagnosed with partial or generalized epilepsy who experience seizure clusters. This study will evaluate the use of USL261, an investigational formulation of intranasal midazolam, as a rescue therapy. identifier: NCT01390220.

Short Bowel Syndrome

In 2014, NPS Pharma launched a global, prospective, multi-center registry to collect data from healthcare practitioners about patients with Short Bowel Syndrome (SBS). The SBS Registry will include five years of enrollment with at least 10 years of follow-up for each participant. It will also consist of clinical information gathered during routine medical care of patients, including safety outcomes for teduglutide; parenteral support data; SBS clinical data for its etiology, progression, complications and management; and clinical outcomes including co-morbidities and mortality. The primary objectives of the SBS Registry are to evaluate – in a routine clinical setting – the long-term safety profile for patients with SBS who are treated with teduglutide and to characterize long-term clinical outcomes in patients with SBS. For more information and guidance for enrolling patients into the SBS Registry, contact Quintiles at +1 866-316-6947 ext. 5 or identifier: NCT01990040

Transthyretin Cardiomyopathy (TTR-CM)

Pfizer is conducting a phase 3 double blind, randomized, placebo-controlled study of Tafamidis, an investigational drug for TTR-CM, to assess the safety and efficacy of this medication. Patients with a genetic variant or a wild-type form (senile systemic amyloidosis or SSA) may be eligible. Approximately 50 percent more patients will be on active medicine than placebo. All patients who complete the study will have the opportunity to receive Tafamidis treatment in a long-term extension study. More.

Tuberous Sclerosis Complex (TSC)

The Hugo W. Moser Research Institute at Kennedy Krieger, Inc. is conducting a study to assess the feasibility and safety of conducting a larger clinical trial with rapalogues (sirolimus or everolimusin) in individuals with TSC who also have possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay and self-injury. More.

Urea Cycle Disorders (UCD)

A clinical trial called SELICA III sponsored by Cytonet is designed to evaluate the safety and efficacy of liver cell therapy in infants and children up to age 5 with UCD. Liver cell therapy involves collecting healthy cells from donated livers not suitable for transplantation (obtained from U.S. organ procurement organizations) which are then isolated and undergo complex processing. These cells are infused into the hepatic portal vein over six days. Researchers seek to enroll 20 patients in 12 medical centers. Identifier: NCT01195753.

Copyright ©2015 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .