What is a clinical trial?
Before a potential treatment can get to our families, it has to go through a clinical trial. A clinical trial is a scientific experiment. It is not a medical treatment. In a clinical trial for a potential therapy, a drug that has been thoroughly investigated in the laboratory (for example in a test tube or mouse) is tested in human beings for safety and efficacy. Drug developers must provide data to the Food and Drug Administration (FDA), or its counterpart in other countries, compelling evidence that the drug is safe enough for its intended use and delivers a therapeutic benefit.
Clinical trials are conducted in phases
Enroll in a Clinical Study
The National Institutes of Health website ClinicalTrials.gov provides easy and free access to information on clinical studies. Our list below includes all FSHD studies that are currently enrolling volunteers, including some that are not in clinicaltrials.gov. After identifying a trial that you are interested in, the next step is to contact the study coordinator listed on the page and ask for details about enrolling.
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 a tissue donation registry.
Studies recruiting research subjects
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.
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 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
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
For more complete information on ongoing and past clinical trials for FSHD, visit our List of FSHD Clinical Trials.
FAQs about Clinical Trials
Before joining a clinical trial, it is important to learn as much as possible. Discuss your questions and concerns with members of the team conducting the trial. Also, discuss the trial with your health care provider to determine whether or not the trial is a good option based on your current treatment.
Be sure you understand:
• How long is the trial going to last and what will I be asked to do as a participant?
• How will the treatment be given?
• What are the risks and benefits associated with participating in the trial?
• Will I also receive health care during the trial?
• Do I have to pay for any part of the trial? Does insurance cover these costs?
• Will I be reimbursed for travel costs or childcare?
• Who is conducting the clinical trial?
If you decide to participate, here are the initial steps:
• Visit clinicaltrials.gov website to learn more about the trial details and contact information to the most convenient trial site coordinator
• The site coordinator will send you information about the trial and an informed consent document. The coordinator will schedule an interview to review this information
• If the coordinator determines that you are a candidate for the trial, you will be scheduled to be seen at the clinical trial site for further questions and tests. This is known as a “screening” process to see if you meet all of the criteria for being included in the trial
• If you meet the trial criteria, you will be instructed on how to begin your participation in the trial.
Other things you should know:
• Your participation is voluntary. You can leave at any time.
• There may be some risks, and the experimental drug may not help you.
• It’s a commitment. You may need to visit the research clinic multiple times and have several tests or procedures.
There are many types of trials with varying goals, all of which are very important for improving patient care and outcomes.
- Observational trial, also called a natural history study, is one of the most important and fundamental types of trials for developing a treatment.
- Treatment trials test new therapies such as new drug combinations or new surgical approaches.
- Prevention trials research ways to prevent disease, including medicines, vitamins, vaccines, or lifestyle changes.
- Diagnostic trials research tests or procedures for diagnosing specific diseases or conditions.
- Screening trials identify ways to detect certain diseases or health conditions.
- Quality of Life trials, also called Supportive Care trials, look at ways to improve comfort and the quality of life for people with chronic illness.
The duration of a clinical trial protocol is determined by the minimum length of time in which investigators think they will be able to detect the effect of the experimental treatment. For example, in a Phase 2 trial, a drug designed to stop DUX4 gene expression (measured by biochemical analysis of patients’ muscles) might be expected to show this effect in a relatively short time, perhaps a few months. BUT a Phase 3 trial, which has to show that the drug has an impact on patients’ symptoms (not just their muscle biochemistry), might take several years, because patients show an average rate of decline in function of only 3-5 percent. Such a small change can be obscured by “noise” unless there are a large number of patients and/or a longer study.
Other factors contribute to the overall length of time of a trial, as described below. The two ways in which patients make a critical difference are the first one (the speed with which people volunteer for a clinical trial) and the third (the number who volunteer so that enough people make it through the screening process).
- How quickly volunteers sign up. If a one-year trial needs 24 volunteers and 24 people sign up right away, the trial can collect its data in one year. But if only 1 volunteer signs up each month, it will take 24 months just to get all the volunteers needed, and so it will end up taking three times as long (36 months) to finish collecting the data.
- The trial site has limited capacity to screen volunteers. Clinical trials have to screen volunteers to make sure they meet the criteria for the trial. If the screening process is complicated and requires multiple staff to run tests for each volunteer over several days, or requires the use of equipment that is heavily used by others and so has to be scheduled weeks in advance, etc., the trial site may be able to screen only a few volunteers a month.
- The trial criteria screen out many volunteers. Great care is put into reducing any factors that could “muddy the waters” and make clinical trial data unreliable or hard to interpret. This is why clinical trials typically limit the age of participants, turn away people who have certain illnesses, are unable to perform the tests required in the trial, etc. Thus, several volunteers may have to be screened for each one who makes it into the trial.
- Data analysis takes time. The clinical trial data cannot be properly analyzed until the last patient has completed the trial. And even then, it can take many months before the analysis is completed. Enormous effort goes into making sure both the data and analytical methods are “bullet proof.”
A clinical trial is NOT THE SAME as medical treatment. Understand the differences between clinical research and medical treatment and what those differences mean for you. (Source: FDA, Clinical Research Versus Medical Treatment)
Any experiment involving human volunteers must be conducted with the greatest attention paid to safety and ethics. All clinical trials in the United States must be reviewed and approved by an Institutional Review Board (IRB). This independent committee of professionals and members of the community ensures that risks are low and that the trial is worth the potential benefits.
When studying a new drug, it can sometimes take many years to learn whether a drug actually provides a “clinical benefit”—a positive effect on how a patient survives, feels, or functions. Mindful of the fact that it may take an extended period of time to measure a drug’s intended clinical benefit, in 1992 FDA instituted the Accelerated Approval regulations. These regulations allowed drugs for serious conditions that filled an unmet medical need to be approved based on a surrogate endpoint.
A surrogate endpoint used for accelerated approval is a marker: a laboratory measurement of certain molecules (“biomarkers”) in blood or other fluids or tissues, an image (MRI, X-ray, ultrasound), physical sign, or other measure that is thought to predict clinical benefit, but is not itself a measure of clinical benefit.
The FSHD Society's Therapeutic Accelerator initiative includes projects to validate surrogate endpoints including blood biomarkers and imaging biomarkers.
There is good reason to be concerned, as the internet is full of companies and "doctors" touting miracle cures. Here are some basic guidelines to help you determine if a treatment or trial is legitimate.
Legitimate clinical trials are:
- Listed on clinicaltrials.gov
- Provide an information flyer that has been IRB-approved
- Require that you read and sign an informed consent (also IRB-approved)
- Free to volunteers. You should never be asked to pay in order to participate.
Legitimate treatments:
- Have gone through the FDA approval process
- Have had studies of the treatment's efficacy, side-effects, etc. published in legitimate, peer-reviewed scientific and medical journals
- Have been independently validated (i.e. by researchers with no financial ties to the manufacturer)
- Are manufactured under Good Manufacturing Practice (GMP) standards