Volunteer for a Clinical Study

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.

In addition to studies listed below, you can volunteer to join a patient registry or make arrangements to donate tissue at surgery or upon death through our FSHD tissue donation registry.

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:

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.

Cambridge, Massachusetts-based Acceleron Pharma, Inc., is now recruiting adults with FSH muscular dystrophy for a Phase 2 clinical trial of ACE-083. Sites in Kansas City, KS, St. Louis, MO, and Rochester, NY, are now recruiting. Additional sites across the U.S. are expected to begin recruiting soon.

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:

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)

The Johns Hopkins Hospital and the Kennedy Krieger Institute are looking for near relatives of FSHD patients ages 35 and older who do not currently show symptoms.  Volunteers will be asked to give a blood draw, which can be performed at any local lab.  The blood draw, the genetic test, and shipping will be covered by the study.

Interested individuals should contact Pegah Dehghan: dehghan@kennedykrieger.org.

Study Protocol Number: NA-00019985.  Download study flyer.

Facioscapulohumeral Muscular Dystrophy (FSHD) Imaging Study at Kennedy Krieger Institute, Baltimore, MD.

The Kennedy Krieger Institute is recruiting volunteers with FSHD for a clinical research study. Volunteers will be asked to undergo muscle strength testing and non-invasive magnetic resonance imaging (MRI) and spectroscopy (MRS) of the muscles. The strength testing and MRI/MRS scans will be repeated every 3-6 months for up to 2 years.

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: leungd@kennedykrieger.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

The University of Washington is seeking individuals to participate in a research study aimed at identifying biomarkers of Facioscapulohumeral Dystrophy (FSHD). This study will assess and compare muscle and blood biomarkers in individuals both with and without FSHD. The study is enrolling participants under the direction of Dr. Leo Wang, MD, Neurology Assistant Professor. Blood and muscle tissue samples will be used to better understand FSHD and identify biomarkers of the disease. We are hopeful this research will provide information for development of therapies in the future. All participants must be 18 to 75 years of age and NOT taking any medication for anticoagulation (blood thinners). The study requires one visit lasting about 2.5 hours to the University of Washington Medical Center for the collection of blood and muscle biopsy samples. Participants will be given a stipend of $200. If you are interested and/or would like additional information, please call Susan, the study coordinator at 206-685-2028 or email at rileys@uw.edu. This study is sponsored by Friends of FSH Research.

University of Minnesota Wellstone Muscular Dystrophy Center study of FSHD muscle stem cells

Participants are sought for a University of Minnesota study on muscle stem cells in FSHD. “We are studying the muscle stem cell in FSHD, and in particular are studying what the DUX4 protein is doing in these stem cells. Although the genetics of FSHD clearly implicate the DUX4 protein in the disease, we do not understand how DUX4 leads to muscle loss. This study addresses this question.

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.

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: amccalley2@kumc.edu

Download for further details: Rasch-Analysis Study Fact Sheet

The Wellstone Muscular Dystrophy Cooperative Research Center for FSHD is recruiting families to discover factors that impact disease severity.

 Doris G. Leung, MD, and Kathryn Wagner, MD, PhD Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, Maryland Download Kennedy Krieger Study recruitment flyer. The study is especially seeking to increase the number of participants from ethnic minority groups.  The Center for Genetic Muscle Disorders at the Kennedy Krieger Institute is a member of the US National Institutes of Health (NIH) Wellstone Muscular Dystrophy Cooperative Research Center, “Biomarkers for Therapy of FSHD.” This group includes basic science, clinical, and translational researchers at multiple academic institutions coordinated through the University of Massachusetts Medical School. The Center is actively involved in several research studies focused on discovering the mechanisms of disease and developing improved methods of studying muscle in FSHD. One of their most successful efforts has been the muscle biopsy program, which was designed to systematically collect and characterize muscle tissue samples that could be shared among multiple FSHD researchers. So far, the muscle biopsy program has succeeded in collecting muscle tissue from more than 80 individuals. These muscle samples are not only being used by researchers in the Wellstone, they are also being transformed into cell lines that can be stored and shared with outside research groups and used in future studies of FSHD. The Wellstone muscle biopsy program is now in the process of expanding to include a second site, the University of Massachusetts Medical School. The muscle biopsy program has also expanded within the Kennedy Krieger Institute to include a non-invasive imaging biomarker project. One of the unique features of the Wellstone study is the co-enrollment of unaffected family members along with individuals who have FSHD. This has proven to be a valuable asset to the Wellstone’s research efforts in that it allows researchers to more accurately judge whether genetic variations seen in a person’s muscle tissue are related to FSHD or if they are normal variations that belong to that person’s family. An unexpected outcome of the FSHD biopsy study was the discovery of several individuals who participated as the unaffected control family member, but were found to have the gene mutation that causes FSHD. Many of these individuals, “non-manifesting carriers,” did not have weakness although they did have the same mutation as their affected family members. A new research project is now under way to determine what factors cause some people with the mutation to have severe disease and others to have normal strength. It is possible that there are major genetic modifiers (including the SMCHD1 gene, which was recently found to be associated with FSHD2, also called FSHD1B, a less common type of FSHD) which do not cause disease by themselves, but have a significant effect on the symptoms of the disease. These genetic modifiers not only would provide new information on the pathologic processes that govern FSHD, but they could also provide new targets for therapies. In order to identify and study these non-manifesting carriers of FSHD, researchers in the Wellstone are working on recruiting larger families of individuals with FSHD. They are particularly interested in recruiting individuals who have a first-degree relative (parent, child, or sibling) with FSHD, but do not have any symptoms of muscle disease themselves. These individuals will be asked to undergo genetic testing for the mutation that causes FSHD in addition to neurological evaluation to confirm the absence of muscle weakness or other signs of FSHD. Those who are found to be non-manifesting carriers of FSHD may be asked to undergo further testing, such as muscle MRI, to assess for subtle signs of disease. This exploration of the milder end of the FSHD spectrum represents a new avenue of research in FSHD, and the investigators of the Wellstone are very hopeful that it will forge new collaborations within the FSHD research community and build on the tremendous progress that has been made in the field of FSHD research in recent years. Individuals or families who would like to receive more information about this study should contact Genila Bibat, the study coordinator for the Center for Genetic Muscle Disorders, at (443) 923-2697 or bibat@kennedykrieger.org.

UC Davis Kinect Upper Extremity Study is seeking volunteers

Study title: Kinect UO1: Development of Novel Upper Extremity Outcome Measures Using 3-D Vision Technology The purpose of this study is to develop new outcome measures for patients with muscular dystrophy. These outcome measures will focus on upper arm movement and what we call range of motion or reachable workspace. Ultimately our goal is to develop these new techniques to aid in the development of new therapies and create outcome measures for clinical trials. We would like to see the participant every 6 months for a total of 3 visits. Each visit takes about 1-1.5 hours. We will also compensate $20 for each completed visit. The following procedures will be performed at each visit:

  • Height, weight and arm measurements will be taken
  • Range of Motion Task on the Kinect system: the participant will sit in front of a motion sensing camera that will track the movement of the arms and will be asked to perform various movements indicated by the clinical evaluator.
  • Strength: a strength and flexibility test of the shoulders and elbows using a hand held dynamometer
  • Range of motion test: a range of motion will be taken at the arm joints, shoulders, and elbows made by the clinical evaluator with a goniometer (angle measuring tool)
  • 9-Hole peg test: This is a timed assessment of hand coordination and dexterity which require moving pegs from one part of the board to another.
  • Performance Upper Limb (PUL): the participant will be asked to perform everyday tasks including, but not limited to: picking up coins, turning on a light switch, writing with a pen, and lifting 1 kg to shelf height.
  • Questionnaire: a questionnaire regarding daily activities.
  • FSHD Evaluation Scale: an evaluation of the arms, legs, face, shoulders, and hips.

The study will take place at UC Davis Medical Center in PM&R Research: 4860 Y Street, Suite 1113 Sacramento, CA 95817. Contact the Research Coordinator Alina Nicorici at 916-734-0968. For more information download the UCDavis_KinectStudy_Flyer.

Studies no longer recruiting

aTyr Pharma ongoing Phase 1b/2 Clinical Trials. Active but no longer recruiting, or enrolling by invitation.

aTyr Pharma, a company engaged in the discovery and development of therapeutics to address severe rare disease, is currently conducting two trials of Resolaris (ATYR1940) in patients with rare myopathies with an immune component:

aTyr Phase 1b/2 trial summary

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.

ATYR1940-C-003 Study:

  • 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

ATYR1940-C-004 Study:

  • 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 clinicaltrials@atyrpharma.com 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.

A Placebo-Controlled, Randomized, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Molecularly Defined Genetic Muscular Dystrophies. For clinical trial eligibility criteria and locations, visit clinicaltrials.gov. May 2015 presentation on Resolaris here.  

aTyr Pharma blood biomarker study

Patients in the Southern California region have an opportunity to participate in a clinical study of FSHD. The study is sponsored by aTyr, a biotechnology company in San Diego, in collaboration with Sanguine, a company in Sherman Oaks, California, that collects biospecimens directly from patients in their homes on behalf of clients that include companies, research institutes and patient advocacy organizations. Sanguine will be compensating donors for the sample collections ($50 each). Dr. Melissa Ashlock, Vice President, External Scientific Alliances & Human Genetics at aTyr Pharma, explains the purpose of the aTyr study. If you have any questions, please contact June Kinoshita at june.kinoshita@fshsociety.org or 781-301-6649.

Cooperative International Neuromuscular Research Group recruiting patients with Infantile-Onset FSHD. Recruitment completed; now closed.

Lauren Hache, Clinical Research Manager, Cooperative International Neuromuscular Research Group (CINRG) Children’s National Medical Center, Washington DC The Cooperative International Neuromuscular Research Group (CINRG) site at the Children’s National Medical Center in Washington DC is recruiting patients with infantile-onset FSHD. To date, we have identified 30 eligible participants from participating CINRG sites globally; we look forward to further enrollment and data collection over the coming months. During a third year no-cost extension Drs. Mah and Yi-Wen Chen are designing new research projects based on this growing cohort of individuals with a relatively rare but more severe form of FSHD and are moving forward with data analysis as well as collecting further samples for expression-profiling studies to be done at Dr. Chen’s lab. Study Name: A multicenter collaborative study of the clinical features, expression profiling, and quality of life of infantile onset FSHD. Study Overview: This study is being run by the Cooperative International Neuromuscular Research Group (CINRG). More information about CINRG and its research studies can be found at the CINRG website. This study is an observational study that aims to advance our knowledge of infantile-onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluation). The procedures may be split over additional days for scheduling purposes. Inclusion Criteria: Clinical diagnosis of FSHD including the presence of all of the following features based on review of medical records and/or direct examination: 1) onset of symptoms involving the facial or shoulder girdle muscles; and 2) genetic confirmation (according to the study defined criteria for FSHD). How to Become Involved: For more information about the study and a list of participating CINRG sites please view ClinicalTrials.gov or the CINRG website. The FSH Society is providing stipends for patients who cannot afford the expense of traveling to one of the study sites. Travel costs will be reimbursed after you have completed participation in the study and submitted travel receipts. For more information about enrollling in the study please contact the Lauren Hache, MS, CGC, Operations Manager, at (412) 224-2030 or LHache@childrensnational.org to determine if you are eligible and to be referred to a participating CINRG site.