Clinical Trials

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.

Genila Bibat, 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.

This study is a Phase 2, randomized, double-blind, placebo-controlled, parallel-group, multicenter study designed to evaluate the efficacy and safety of losmapimod in treating patients with Facioscapulohumeral Muscular Dystrophy (FSHD) over 24 weeks. Patients will participate in this study for approximately 29 weeks. This will include a 4-week screening period, a 24-week, placebo-controlled treatment period and a 7 day safety follow-up period.

Patients must have a confirmed diagnosis of FSHD1 and genetic confirmation must be obtained prior to the screening MRI and baseline muscle biopsy. Patients will be randomized to receive 15 mg of losmapimod or placebo tablets by mouth for 24 weeks. All patients will be asked to attend the study clinic for each scheduled visit. The primary endpoint of the study is to evaluate the efficacy of losmapimod in inhibiting or reducing expression of DUX4, as measured by a subset of DUX4-regulated gene transcripts in skeletal muscle biopsies of FSHD patients. Secondary endpoints include evaluation of the safety and tolerability of losmapimod, the plasma concentrations of losmapimod, levels of losmapimod in skeletal muscle and losmapimod target engagement in blood and skeletal muscle in FSHD patients. For more details and updates on trial sites, please visit: https://clinicaltrials.gov/ct2/show/NCT04003974

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

Download the flyer..

The Cardiovascular Research & Rehabilitation Laboratory within the Program of Physical Therapy and Rehabilitation Sciences at the University of Minnesota is conducting a research study to understand if the resting metabolic rate and cardiovascular response to exercise are affected by the genetic mutation that causes for facioscapulohumeral muscular dystrophy.

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 612-624-6534/crrl@umn.edu

Download a copy of this letter

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.

Sponsor: Murdoch Childrens Research Institute Information provided by (Responsible Party): Murdoch Childrens Research Institute

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