The National Institutes of Health website ClinicalTrials.gov provides easy and free access to information on clinical studies for a wide range of diseases and conditions. Open Trials is a free, open, online database of information about the world’s clinical research trials. Data from multiple sources are linked together in a user-friendly format. Currently in a beta-test version. Open Trials is funded by The Laura and John Arnold Foundation through the Center for Open Science.
To find a clinical trial with the keyword “facioscapulohumeral,” please click here (clinicaltrials.gov) or here (opentrials.com). After identifying some options, the next step is to contact the study recruitment staff and ask questions about specific trials.
Studies recruiting research subjects
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 firstname.lastname@example.org
or Catherine Douthwright, PhD Neurology Research Coordinator Phone: (508) 856-6491 email@example.com 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.
Research study for FSHD (Facioscapulohumeral Muscular Dystrophy) conducted by Dr. Michael Kyba and Dr. Peter Karachunski, University of Minnesota.
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 firstname.lastname@example.org
Approved for use by UMN IRB Effective on 5/30/2018 IRB Study Number: STUDY00000409
Research study to understand if the resting metabolic rate and cardiovascular response to exercise are affected by the genetic mutation that causes for FSHD. By Manda L Keller-Ross, PhD, DPT, PT, University of Minnesota.
We are seeking volunteers who have been diagnosed with facioscapulohumeral muscular dystrophy to participate in our study. Volunteers must be over the age of 18 and not be pregnant or nursing. This study requires a one-time visit to the lab which will last one and a half hours.
If you are interested in hearing more about this study, please contact the study coordinator. Contact information is included in this letter as well as on the attached flier. If you are interested in learning more about our laboratory and our research please visit our website. We appreciate your consideration and look forward to talking with you further.
Contact Information: Study Coordinator: Mia Larson email@example.com
Volunteers who are 18 to 55 years of age with FSHD needed for a study to evaluate functional mobility. Principal investigator, Jay Han, MD, UC Irvine.
About the Study
- Up to 2 visits to the Acute Rehab Unit or outpatient PT/OT clinic at University of California, Irvine Medical Center in Orange, CA
- Up to 1 hour for each visit
- $200 compensation after completion of the study
- No cost to you or insurance
- Lead Researcher of this study: Jay Han, M.D., UC Irvine, Department of Physical Medicine and Rehabilitation
If interested, please contact: Vicky Chan, DPT Phone: 949-447-8339 Email: firstname.lastname@example.org And ask about the “The FSHD Study”
Download flyer here.
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD. PI Jeffrey Statland, MD.
Brief Summary: The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered identifying targets for therapy. 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.
A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy. Acceleron Pharma. Multiple sites in U.S.
ACE‐083 is an investigational drug that inhibits selected proteins in the transforming growth factor‐beta (TGF‐β) superfamily involved in the regulation of muscle size and strength. ACE‐083 has been designed to increase muscle size and strength specifically in the muscles into which the drug is administered. Acceleron is developing ACE‐083 for diseases in which improved muscle strength in a specific set of muscles may provide a clinical benefit to patients, such as FSHD. As an “investigational” agent, ACE‐083 is not approved by any regulatory agency for use in any country. For full details of the clinical trial, including updates on new clinical trial locations, please visit ClinicalTrials.gov: Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD).
Additional details can be downloaded here:
- Overview of ACE-083 study for FSHD (flyer)
- FAQs about ACE-083 trial for FSHD
- Update on ACE-083 trial for FSHD
If interested, please contact Kate Puzzanghera at 781-301-7301 or by email.
FSHD Blood Draw Study at Johns Hopkins Hospital, Baltimore, MD (Non-local patients encouraged to apply)
Interested individuals should contact Pegah Dehghan: email@example.com.
Study Protocol Number: NA-00019985. Download study flyer.
Facioscapulohumeral Muscular Dystrophy (FSHD) Imaging Study at Kennedy Krieger Institute, Baltimore, MD.
We are particularly interested in recruiting individuals over the age of 12 years who started having symptoms of FSHD within the past 3 years.
Although there are no direct benefits to volunteers who participate in this study, the information collected from the study will be used to develop disease biomarkers for FSHD.
Interested individuals should contact Doris Leung, MD at 443-923-9521 or e-mail: firstname.lastname@example.org.
Kennedy Krieger Institute, Johns Hopkins Medical Institutions Study Protocol Number: NA_00065256. Download study flyer.
FSHD biomarker study by Dr. Leo Wong, University of Washington, Seattle
University of Minnesota Wellstone Muscular Dystrophy Center study of FSHD muscle stem cells
Study participants (FSHD and control individuals) will provide a small muscle biopsy from the quadraceps. The biopsy is taken using a needle and performed by Dr. Karachunski in the Muscular Dystrophy Clinic. Topical anesthetic is used.”
For more information, download the study recruitment flyer.
The Wellstone Muscular Dystrophy Cooperative Research Center for FSHD is recruiting families to discover factors that impact disease severity. Principal Investigators: Doris G. Leung, MD, and Kathryn Wagner, MD, PhD Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry, Rochester, New York
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: email@example.com 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: firstname.lastname@example.org; Web: http://www.dystrophyregistry.org
Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2, Hospitalier Universitaire de Nice, France
Brief Summary: The investigators propose to conduct a comparative pilot cognitive and psychiatric profiles of 10 patients Facio-Scapulo-Humeral Dystrophy (= FHSD) type 1 and 10 patients with type 2 FSHD study. For this, the investigators relied on observational components: FSHD2 patients appear more often present with psychiatric comorbidities and seem to have lower cognitive performance compared to FSHD1 patients. This was confirmed by a preliminary study on a small sample population of patients. It seems to exist mainly executive dysfunction associated with attention disorders in patients FSHD2. Moreover, their performance in IQ tests would be low in relation to their socio-educational and compared with patients FSHD1 level.
Locations: Hôpital Pasteur, Nice, France, 06002 Contact: Muriel LAFFON, Dr 04 92 03 82 69 ext +33 email@example.com Principal Investigator: Muriel LAFFON, Dr Sponsors and Collaborators Centre Hospitalier Universitaire de Nice.
For details visit https://clinicaltrials.gov/ct2/show/NCT02032979
Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD, Murdoch Childrens Research Institute, Melbourne, Australia
Brief Summary: 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. The study will begin recruitment in early 2017. For further details visit https://clinicaltrials.gov/ct2/show/NCT02948244
Molecular Analysis of Patients With Neuromuscular Disease, Boston Children’s Hospital, Boston MA
Brief Summary: The purpose of this study is to identify genes and proteins responsible for nerve and muscle disorders by studying genetic material from individuals with neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy but have no causative gene implicated in their disease. We feel that these patients may have new genetic changes in genes coding for important muscle proteins that we have yet to identify. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
For further details visit https://clinicaltrials.gov/ct2/show/NCT00390104
Studies not currently recruiting
Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial (NEMS and FSHD). University Hospital, Montpellier, France
Brief Summary: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease characterized by progressive weakness and atrophy of specific skeletal muscles. One of the major problems of patients affected by FSHD is the limitation in performing daily activities induced by the progressive muscle weakness. This sedentary lifestyle can cause a “debilitative cycle,” and neuromuscular deconditioning can even aggravate the muscular deficiencies. Recent studies have indicated the safety and the effectiveness of moderate aerobic training programs in patients with FSHD. However, these training programs have limited applicability in patients with more severe muscular weakness. Artificial strength training by means of neuromuscular electrical stimulation (NMES) appears to be a promising rehabilitation strategy for FSHD patients suffering from neuromuscular disorders. Therefore we propose to investigate the feasibility, safety, and effectiveness of NMES strength training to counteract quadriceps muscle weakness in patients affected by FSHD.
For further details, visit https://www.clinicaltrials.gov/ct2/show/NCT02861911
Routine Health Care of Patients With FSHD (FSHD). University Hospital, Montpellier, France
For further details, visit https://www.clinicaltrials.gov/ct2/show/NCT02622438
Acceptance and Commitment Therapy for Muscle Disease (ACTMuS), King's College Hospital NHS Trust, London UK
Brief Summary: In adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases. However, there has been limited research to evaluate interventions that may improve quality of life (QoL) with this patient group. The QoL of those with MD is not just affected by the severity of their MD but also a variety of psychological variables. Based upon the knowledge of these psychological variables the investigators feel that a particular type of psychological intervention known as “acceptance and commitment therapy” (ACT) could potentially improve QoL in those with MD. The investigators therefore propose to test whether ACT does in fact improve QoL in those with MD by randomising 154 patients to receive either standard medical care plus a guided self-help ACT programme, or standard medical care only.
For further details, visit https://clinicaltrials.gov/ct2/show/NCT02810028
STARFISH: STUDY OF TESTOSTERONE AND RHGH IN FSHD: A PROOF-OF-CONCEPT STUDY Principal Investigator, Chad Heatwole, MD, University of Rochester
Purpose Researchers at the University of Rochester in Rochester, NY, are looking for individuals with FSHD who are interested in participating in a research study to learn more about a potential symptomatic therapy for FSHD. This study may help determine if a combination of drugs (recombinant human growth hormone [rHGH] and testosterone) can be safely given to patients with FSHD and possibly improve walking, strength, muscle mass, quality of life, and functional ability.
What’s involved? The study involves five visits (one with an overnight stay) at the University of Rochester. Travel costs may be reimbursed up to $500 per visit. Study procedures include taking the study drugs (testosterone and rHGH), a physical exam, collection of blood samples, muscle strength and function testing, questionnaires, EKGs, DEXA scans. There is no cost to you to participate, and you will be provided an honorarium after completing four of the visits.
You are eligible to participate if:
- You are a man with FSHD
- You are 18-65 years old
- You are able to walk.
Download the Rochester Study Recruitment Flyer.
For more information, please contact: Liz Luebbe Study Coordinator University of Rochester Medical Center Phone: 585-275-7867 Email: firstname.lastname@example.org
Rationale According to the NIH Research Portfolio website, the rationale for this study is described as follows:
“Large scale clinical trials have found that testosterone combined with recombinant human growth hormone (rHGH) (combination therapy) is well tolerated and effective in synergistically improving respiratory function, lean body mass, protein synthesis, strength, and aerobic endurance in healthy adult human populations. Both testosterone and rHGH are readily available and approved for human use but have never been formally studied together in a muscular dystrophy population. We propose a 36-week, proof-of-concept clinical study of the safety and tolerability of daily rHGH combined with biweekly testosterone injections in men with FSHD. All participants will be serially and closely monitored during a 24 week period of combination therapy followed by a 12 week washout period. Safety assessments will include monitoring for medication side effects, laboratory abnormalities, physical exam changes, and EKG alterations. As a secondary objective, we will examine the pharmacokinetic effects of combination therapy on lean body mass and serum biomarkers. Participants will also have serial assessments of their ambulation, strength, physical function, patient-reported disease burden, and respiratory function. Ultimately, this study will generate extensive data regarding the clinical safety, pharmacokinetics, and change in body composition and clinical function associated with combination therapy in a predefined FSHD population.”
Also see the study listing on ClinicalTrials.gov.
Rasch-analysis of Clinical Severity in FSHD (ROC-FSHD). Principal Investigator: Jeffrey Statland, MD, University of Kansas Medical Center.
Recent advances in our understanding of FSHD have identified for the first time, since discovering the mutation behind FSHD 20 years ago, a potential target for therapy, and the research community has shifted towards clinical trial planning. However, hampering these efforts are the wide variability in disease expression, which at its heart, may be due to the epigenetic nature of the disease.
A barrier to identifying genetic or environmental modifiers of disease has been the lack of a clinically meaningful tool for documenting progression of disease. Such a rationally built scale would be calibrated so each increment in the scale would reflect a progression in the clinical disability of the disease. Such a scale would enable the identification of genetic and environmental modifiers of disease expression, while at the same time providing a powerful tool to stratify patients for future clinical trials, potentially reducing the variability and increasing the likelihood of identifying potentially effective therapeutics. In addition such a tool would be invaluable for prognosis and surveillance in the clinic.
Here we propose to develop a scaled and calibrated Rasch-built clinical severity scale for FSHD (the FCSS). We are seeking fifty (50) volunteers, twenty-five (25) from the University of Kansas Medical Center, to participate in this study. Volunteers will be required to make a single visit lasting approximately 6 hours. Anyone with a diagnosis of FSHD who can travel to and from the University of Kansas Medical Center is eligible for this study.
Contact: Ayla McCalley, Neuromuscular Research Center, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mailstop 2012, Kansas City, KS 66160. Phone: 913.945.9937. Email: email@example.com
Download for further details: Rasch-Analysis Study Fact Sheet.
aTyr Pharma ongoing Phase 1b/2 Clinical Trials. Active but no longer recruiting, or enrolling by invitation.
The trials are designed to assess the safety, tolerability, immunogenicity and activity of Resolaris in patients with the muscular dystrophies of FSHD or limb-girdle muscular dystrophy 2B (LGMD2B or dysferlinopathies). ATYR1940-C-003 is open for enrollment. ATYR1940-C-004 has nearly completed enrollment and is currently closed to screening.
aTyr Pharma recently announced results from its first Phase 1b/2 trial in adult patients with FSHD. To review the press release, please visit the Press section at www.atyrpharma.com.
What is Resolaris (ATYR1940)? aTyr Pharma is developing Resolaris as a potential protein therapeutic for patients with severe, rare mypotathies with an immune component, for which there are limited or no approved treatments. Resolaris is derived from a naturally occurring protein released in vitro by human skeletal muscle cells The Company believes Resolaris could potentially play a role in promoting skeletal muscle health by acting as an immunomodulator in skeletal muscle. Inflammation is believed to play a role in the disease process in FSHD and LGMD2B. For additional information, please visit www.atyrpharma.com.
Where are the trials conducted? Clinical sites for both studies are located in the United States and Europe as set forth below.
- Stanford University, Palo Alto, California
- University of Iowa Children’s Hospital, Iowa City, Iowa
- University of Utah, Salt Lake City, Utah
- Institut de Myologie, Paris France
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milano Italy
- University of California, Irvine, ALS and Neuromuscular Center, Irvine, California
- Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland
- OSU Wexner Medical Center, Columbus, Ohio
- Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
- Institut de Myologie, Paris France
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Milano Italy
Where can I find more information on these trials? Please visit the following websites to get more detailed information: www.clinicaltrials.gov (type ATYR1940 in “Search studies”) and www.atyrpharma.com. You can also contact aTyr Pharma by email at firstname.lastname@example.org or phone at 1-877-215-5731.
Can I participate in one of these trials? To be enrolled in the ATYR1940-C-003 study, you should be between 16 and 25 years old, have a genetic confirmation of FSHD and have had onset of FSHD symptoms prior to 10 years of age. You will need to be seen at a participating center. Some history of other diseases or some medication taken can prevent you from participating in the studies. Please talk to your doctor about your individual disease status and whether you might be suitable for one of the studies.
Download the aTyr trial information.
Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy. Enrolling by invitation.
aTyr Pharma blood biomarker study
Cooperative International Neuromuscular Research Group recruiting patients with Infantile-Onset FSHD. Recruitment completed; now closed.