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Current Trials and Studies

Home / For Patients & Families / Current Trials and Studies

Participate in a Clinical Study or Trial

Clinical trial

Clinical studies are a type of research involving human volunteers. Clinical trials are a type of clinical study to test whether a treatment works. The National Institutes of Health website ClinicalTrials.gov provides free access to information on clinical studies and trials. We list below key FSHD studies and trials, including some that are not in clinicaltrials.gov.

If you see a study that you are interested in, you can contact the study coordinator listed on the page and ask for details about enrolling.

Learn more

     What is a clinical trial?
     Practical Guide to Clinical Trials
     Clinical Trials FAQ

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Key Studies

Avidity Fortitude

FORTITUDE

Study of AOC 1020 in Adults with FSHD

A Phase 1/2 study of a medicine called AOC 1020. The purpose is to understand how AOC 1020 acts in the human body, evaluate how safe AOC 1020 is and what the side effects of taking it might be, and test whether AOC 1020 can slow or stop the progression of FSHD 

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ROCHE Manoeuvre

MANOEUVRE

Study to Evaluate RO7204239 in Participants with FSHD

MANOEUVRE is a Phase 2 study of a medicine called RO7204239. The purpose of the study is to test whether RO7204239 can help muscles grow, evaluate how safe RO7204239 is, and what the side effects of taking it might be for patients.

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MOVE

MOVE & MOVE+

Natural history study of FSHD

To hasten drug development in FSHD and improve care delivery. This study will collect motor and functional outcomes specific to FSHD over time, help us understand how FSHD impacts motor function and other health outcomes and how these changes are clinically meaningful.

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REACH a clinical trail for FSHD

REACH

Efficacy and Safety of Losmapimod in Treating Patients with FSHD

A Phase 3 study of a medicine called losmapimod. The purpose of the study is to test whether losmapimod can slow or stop the progression of FSHD, evaluate how safe losmapimod is and what the side effects of taking it might be.

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Additional studies

National Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy, Rochester, New York

This is also a very important research study serving the entire community. All patients are encouraged to join it. There is a need for younger, more mildly affected volunteers.

Established with funding from the U.S. National Institutes of Health (NIH), the registry is a database of U.S. patients diagnosed with DM or FSHD who are interested in participating in research about these diseases. Their unaffected family members are also invited to join. The National Registry assists researchers looking for volunteers to participate in their studies by searching the registry database for qualified members. The registry staff sends those members a letter announcing the project. Applications are accepted from members and researchers across the United States. To enroll, people are required to complete a comprehensive questionnaire.

If you would like to participate or have questions, please contact: Leann Lewis, MS Health Project Coordinator at the University of Rochester Medical Center/Fields Center/Neuromuscular Disease Center Phone: 585-275-7680 Email: leann_lewis@urmc.rochester.edu The National Registry of Myotonic Dystrophy and FSHD 601 Elmwood Avenue, Box 673 Rochester, NY 14642-8673 USA Toll free: (888) 925-4302 (9 a.m. to 4 p.m. weekdays, EST); Local (Rochester, NY): (585) 276-0004 Fax: (585) 273-1255; Email: dystrophy_registry@urmc.rochester.edu; Web: http://www.dystrophyregistry.org 

TREAT-NMD international FSHD Registries

This international organization for neuromuscular disease maintains a network of FSHD registries.

STUDY PAUSED. Genetic and epigenetic determinants of neuromuscular diseases. Principal Investigator: Peter Jones, PhD, University of Nevada Reno School of Medicine.

The purpose of the study is to evaluate new ways to diagnose neuromuscular diseases. Neuromuscular diseases (NMDs) can affect the nerves that control the muscles you move voluntarily or the muscles themselves. The techniques used in this research are experimental, and have not been approved by the FDA or any other health authority. This research will evaluate the validity of new neuromuscular disease testing, and could identify new neuromuscular disease genes. You will be asked to provide a saliva sample. We will then collect the DNA from the sample (DNA stands for deoxyribonucleic acid. It is the genetic code of organisms). The DNA will be sequenced and checked for any changes or mutations. In addition, the DNA will be checked for epigenetic changes.

If you are interested in learning more, please contact Peter Jones.

FSHD Biomarker study. Wellstone Center for FSHD Research, Univ. of Massachusetts Medical School. Robert Brown, Jr., MD, and Larry Hayward, MD PhD.

Physicians and researchers at the University of Massachusetts Medical School (UMMS) seek individuals with facioscapulohumeral muscular dystrophy (FSHD) to participate in an FSHD Biomarker Study. This will be conducted by Dr. Robert H. Brown, Jr. and Lawrence J. Hayward, M.D., Ph.D. This study focuses on explaining the variability of FSHD, especially within the same families, through examination of both genetics and other biomarkers.

Purpose: The purpose of this study is to identify and understand genes that may explain why people with FSHD have different amounts of weakness in different muscles (different phenotypes). We also aim to identify biological markers that will enable us to follow and predict disease progression or indicate possible responses to treatment in upcoming FSHD clinical trials.

Participation: Blood, saliva, muscle and/or skin samples from individuals with FSHD, some family members, and population controls are being accepted for this research study. Participants will be asked to complete a brief medical/family history questionnaire. Also, the clinicians will ask for permission to review the medical records of those with FSHD to understand the onset and progression of their disease. The University of Massachusetts Medical School will cover costs of the sample collection for participation, except for travel and housing. We are happy to help to make arrangements for the blood and saliva samples to be collected locally.

Requirements for participation. To become involved, you must:

  • Be diagnosed with Facioscapulohumeral muscular dystrophy (FSHD) or be a family member of someone with FSHD
  • OR Be a control participant with no family history of FSHD
  • Be willing to give a blood sample (approximately 8 teaspoons), or in some cases a saliva sample
  • Be willing to consider giving a muscle and/or skin sample
  • Be willing to complete questionnaires about your general medical/ family history

UMMS Wellstone Center for FSHD: This study is an integral component of the Senator Paul D. Wellstone Cooperative Research Center for FSHD, sponsored by the National Institutes of Health. The overriding goal of the Center is to develop innovative therapies for FSHD. Research projects are conducted by an exceptional team of collaborative investigators led by Charles P. Emerson, Ph.D. (UMMS), Louis Kunkel, Ph.D. (Children’s Hospital of Boston), and Kathryn Wagner, M.D., Ph.D. (Kennedy Krieger Institute at Johns Hopkins School of Medicine). The Center also provides outreach to academic and industry partners and to patient advocacy groups such as the FSH Society to share research materials and to connect with individuals affected by FSHD. Further information about the Center: https://www.umassmed.edu/wellstone/

Benefits: Although there are no direct benefits for those involved in this research, we believe that understanding FSHD will lead to more effective screening, diagnosis, treatments, and ultimately a cure for this disease. We greatly look forward to speaking with you to answer any questions you may have and to describe this study in more detail.

For more information, please contact: Diane McKenna-Yasek, RN, BSN Neuromuscular Research Coordinator Phone: (508) 856-4697 diane.mckenna-yasek@umassmed.edu

or Catherine Douthwright, PhD Neurology Research Coordinator Phone: (508) 856-6491 catherine.douthwright@umassmed.edu Brown Neuromuscular Laboratory University of Massachusetts Medical School Room S5-710 55 Lake Ave. North Worcester, MA 01655 Fax: (508) 856-4675

Download brochure here.

Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD) (CV4DIAGNOSIS). Centre Hospitalier Universitaire de Nice, France.

The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most moderate cases. Thus, it requires costly and burdensome logistics both for patients living in remote areas and having to undertake long and expensive travel, and for clinical staff. This is an obstacle to large-scale diagnosis. The investigators plan to alleviate these limitations through the use of digital facial analysis technology that would enable large-scale diagnosis of patients through telemedicine.

For more information visit clinicaltrials.gov.

A Registered Cohort Study on Facioscapulohumeral Muscular Dystrophy. Ning Wang, MD., PhD., First Affiliated Hospital of Fujian Medical University, China.

To analyze the natural history data, clinical spectrum, genetic features, sepigenetic features, and genotype-phenotype correlations for facioscapulohumeral muscular dystrophy (FSHD), and to optimize clinical management.

Read more here.

Make a Tissue Donation

Tissue donated by FSHD patients is essential for new discoveries that can lead to treatments, and, eventually, to a cure. Please consider the valuable gift to research of tissue donation obtained during certain types of surgery (such as scapular fixation) or at death.

Learn More HERE

UC Davis Research Volunteer Registry

This is a contact registry for individuals who would like to be notified when UC Davis needs patient volunteers for studies in neuromuscular disease. To sign up, visit their website. 

Stanford Neuromuscular Recruitment Database

The Stanford Neuromuscular Recruitment Database is used to recruit people to their upcoming research studies, drug trials, and conferences. If you would like to enroll, visit the Recruitment Database website.

Chinese clinical trial registry

This is a patient volunteer recruitment registry for Chinese clinical trials in FSHD. It is managed by Fujian Medical University. For more information, visit their website.

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