Enroll in a Clinical Study or 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.
Current clinical trials
Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)
See the full trial protocol, eligibility criteria, and locations
What is the drug that is being tested, and how does it work?
The drug is Losmapimod. It reduces the expression of DUX4, the gene that causes FSHD.
What kind of trial is this?
Called REACH, this is a Phase 3, randomized, quadruple-masked, placebo-controlled clinical trial. This means volunteers will be randomly assigned to either the treatment of placebo group, and no one (volunteer, study staff, investigator, sponsor, or monitor) will know who is taking what.
Where is the trial being conducted?
It is at 36 locations in the US, Canada, UK, Spain, France, Germany, Denmark, the Netherlands, Italy. Visit clinicaltrials.gov, scroll down to "Locations," and click on the triangle shape to open up a list of locations. Those that have started to screen volunteers are marked as "Recruiting."
How many volunteers are needed?
The trial needs 230 volunteers.
Who is eligible?
You must have genetically confirmed FSHD1 or FSHD2, be between 18 and 65 years old inclusive, and have a clinical severity score of 2 to 4 (Ricci Score; Range 0-5), at screening. Individuals who are dependent on on a walker or wheelchair for activities are not permitted to enroll in the study. Having one or more of various medical conditions will also make you ineligible.
How long will the trial take?
Approximately 53 weeks. This will include a 4-week screening period, a 48-week, placebo-controlled treatment period and a 7-day safety follow-up period.
How will the treatment be given?
Losmapimod 15 mg twice daily by mouth with food for 48 weeks. The placebo group will take a sham pill twice daily by mouth with food.
What will I be asked to do as a participant?
You will be asked to perform the Reachable Workspace task and take a couple of questionnaires (7 times spread out over the entire trial), undergo whole body MRI (twice), and be screened for adverse events.
Do I have to pay for any part of the trial? Does insurance cover these costs?
The cost of the drug and the assessments, MRI, etc., are covered by the trial sponsor.
Will I be reimbursed for travel costs or childcare?
You will be reimbursed for travel and any needed overnight accommodation.
Who is conducting the clinical trial?
A researcher (principal investigator) will conduct the trial at each trial location.
Who is paying for the clinical trial?
Fulcrum Therapeutics, located in Cambridge, Massanchusetts.
Related stories
See the full trial protocol, eligibility criteria, and locations
What is the drug that is being tested, and how does it work?
The drug is called RO7204239, also known as GYM329. This is an investigational anti-myostatin antibody that is designed to promote muscle growth. Myostatin plays an important role in the regulation of skeletal muscle size by inhibiting its growth. Blocking myostatin may help muscles grow in size and function. RO7204239 has been engineered as a “recycling” and “sweeping” antibody, which means that it may be more efficient at reducing myostatin in the body compared to a conventional antibody. (Ref.)
What kind of trial is this?
MANOEUVRE is a Phase 2 clinical trial. This will be a placebo-controlled study, where eligible participants will receive either RO7204239 or a placebo every 4 weeks via an injection. The study will be double-blinded, meaning that neither the participant nor the study team will know who is receiving the drug or the placebo. It will assess the pharmacodynamics, tolerability, pharmacokinetics, safety, and efficacy of RO7204239 in ambulant (able to walk independently) individuals.
Where is the trial being conducted?
Approximately 10 sites have been selected to participate in the study in four countries: Denmark, Italy, the UK and the United States. Please check clinicaltrials.gov for updates.
How many participants are needed?
Approximately 48 participants.
Who is eligible?
Individuals aged 18-65 years with FSHD1 or FSHD2. Further eligibility criteria are listed on clinicaltrials.com (Clinicaltrials.gov Identifier: NCT05548556).
What is the overall time commitment for a trial participant?
The initial study duration is 60 weeks: 4 weeks of screening, 4 weeks of pre-treatment to collect baseline data, and 52 weeks of double blind placebo controlled study All participants will then have the option to continue for an additional 52 weeks during which all individuals will receive RO7204239. So the total time commitment, for people who elect to continue, is 112 weeks.
How will the treatment be given?
The treatment will be given by a subcutaneous (beneath the skin) injection every 4 weeks.
What will I be asked to do as a participant?
Individuals will be asked throughout to take part in different assessments, including an MRI, muscle function and strength tests, questionnaires, and other evaluations. At the beginning of the study and then every 6 months thereafter, the participants will be asked to wear a digital device for a 4-week period that will help measure everyday upper and lower limb movement and capture changes to activities during normal daily living.
Will the drug be offered to all trial participants once the trial is over?
Participants will have the option to continue participation in the study for an additional 52 weeks, where all individuals involved will receive RO7204239.
Who is conducting the trial?
Researchers at the individual trial sites will conduct the trial.
Who is paying for the clinical trial?
The trial sponsor is Hoffman-La Roche.
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NOT YET RECRUITING : FORTITUDE Phase 1/ 2 Trial. Sposnsored by Avidity Biosciences
Visit clinicaltrials.gov for details on the trial criteria and locations
What is the drug that is being tested, and how does it work?
The drug is called AOC 1020. It is designed to slow or stop FSHD symptoms from getting worse. How AOC 1020 works: An oligonucleotide (oligo) is attached to an antibody, which binds to the transferrin receptor (TfR1) and deposits the oligo inside the muscle cell. The oligo binds to DUX4 RNA and inactivates it. Removing the RNA prevents the cell from making the toxic DUX4 protein which causes FSHD.
What kind of trial is this?
This is a Phase 1 / 2 clinical trial. The trial plans to enroll 68 adult volunteers with FSHD in a randomized, placebo-controlled, double-blind study. This means volunteers will be randomly assigned to either the treatment of placebo group, and no one (volunteer, study staff, investigator, sponsor, or monitor) will know who is on the drug and who is on placebo. Though the Phase 1/2 trial is not statistically powered to assess functional benefit, it will explore the clinical activity of AOC 1020 including measures of mobility and muscle strength as well as patient reported outcomes and quality of life measures.
Related articles
- Promising findings from Avidity’s myotonic dystrophy trial
- Avidity Biosciences announces Phase 1/2 trial for FSHD
More information coming soon.
Additional studies recruiting volunteers
This the largest natural study to date of FSHD. It is open to patients of all ages and abilities. The primary goals are to collect motor and functional outcomes specific to FSHD over time. By collecting measures specific to FSHD, this will help ensure the best level of clinical care is being provided. Also, the study is aimed at speeding up drug development by gaining a better understanding of how having FSHD impacts motor function and other health outcomes (i.e. breathing, wheelchair use, etc.) and how big a change in motor function would be clinically meaningful to those with FSHD. The assessments are done during a regular doctor's visit at one of the participating sites, in order to lower barriers to participation and diversify the population of volunteers. More information.
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.
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
This is one of the most important natural history studies ongoing, designed to develop and validate methods to measure changes in strength, function, and disease progression in FSHD patients. Having well-validated methods is critical to the success of therapeutic trials. The more quickly patients volunteer, the more rapidly the field will have the tools it needs.
Brief Summary: The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered and is driving the development of new treatments. As multiple drug companies pursue treatments for FSHD, there is an urgent need to define the clinical trial strategies which will hasten drug development, including creating disease-relevant outcome measures and optimizing inclusion criteria. This proposal will develop two new outcome measures and optimize eligibility criteria by testing 160 patients in 7 sites over a period of 18 months. For more information, visit clinicaltrials.gov.
This study is being run at the FSHD Clinical Trial Research Network sites. To find a site near you that is currently recruiting volunteers, visit clinicaltrials.gov.
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.
Your participation is essential to advancing research on FSHD Participants are sought for a University of Minnesota study on muscle stem cells in FSHD.
What is involved? Study participants (FSHD and control individuals) will choose to provide any one or all of the following tissue samples:
- a small muscle biopsy taken with a needle from a muscle in the leg
- skin biopsy
- blood and/or urine sample
What are we trying to find out? What causes FSHD is not well understood. Researchers know that DUX4 dysfunction causes symptoms of FSHD, however they do not know how or why only certain muscles are affected. Researchers have developed a way to study this by looking at muscle in affected and unaffected individuals. We are hopeful that by learning more about what causes FSHD we will be able to develop effective treatments for FSHD.
Will I benefit directly? There is no direct clinical benefit to study participants. This study is aimed at understanding why and how muscle is lost in FSHD. This knowledge is essential to developing a therapy.
How can I participate? This study involves a collection of one or all of the above listed tissue samples from you and a control. For every FSHD participant, we need a corresponding control (unaffected) participant. You can help – if you have a sibling, spouse, loved one, friend, or colleague who would be willing to participate and serve as your control, please do let us know.
Thank you for your support! Isolating and studying cells from controls and individuals with FSHD is critical for advancing our understanding and future treatment of this disease.
*Please contact research assistant Natalya Burlakova at 612-626-4690 or burla019@umn.edu
Approved for use by UMN IRB Effective on 5/30/2018 IRB Study Number: STUDY00000409
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.
This multi-centre, randomised, double-blind, placebo-controlled crossover trial will compare changes in strength-related motor function following treatment with creatine monohydrate to treatment with placebo, as measured by the Motor Function Measure, from baseline to 12 weeks. Eligible subjects will undergo baseline assessments then will be randomised to either creatine monohydrate therapy or placebo for three months, followed by a six week wash-out period, then crossover to a further three months of therapy with either placebo or creatine. Subjects will undergo clinical assessments and study safety assessments at the beginning and end of each treatment period.
For more information, visit clinicaltrials.gov.
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.