For Patients and Families
The Congenital Muscle Disease Tissue Repository is accepting tissue donations
The CMD Tissue Repository (CMD-TR) is a place to safely store body tissues donated through routine surgery that can be used for medical research. The CMD-TR can also bring in your left-over tissue from a previous muscle biopsy you had.
Our mission is to provide a free service to patients and families interested in supporting medical research and treatment options through tissue donation. Access to these tissues is critical to the progression of research and the development of treatment therapies, but most people do not know how easy it is for them to support medical research. The staff of the CMD-TR can explain how it works, relieving you of any burden, and your donated tissue will be distributed for use in research studies without the requirement for future involvement or any cost to you. All ages and most types of congenital muscle disease are accepted.
Care of Congenital Myopathy: A Guide for Families
The Care of Congenital Myopathy: A Guide for Families is a comprehensive care guide developed for families and people with congenital myopathy (CM) in response to community requests for useful information. This work began as a translation into more easily understood language from the Consensus Statement on Standard of Care for Congenital Myopathies medical document that was published in 2012 by Wang and colleagues in the Journal of Child Neurology. As the guide for families took shape, it was apparent that the guidebook would include much more than basic medical information, since the writing team had terrific input from the very people living with and caring for someone with CM. The family guide became testimony to many of the challenges, joys, concerns, and triumphs that are typical for those living a not-so-typical life.
Why Donate Tissue to the CMD-TR?
- Human tissue is needed to increase understanding, test theories, and try treatment drugs; it is a bridge to clinical studies.
- Results of human tissue studies can help plan next steps toward treatment options.
- Centralized collection, storage, and delivery of tissue to qualified scientists can advance research faster.
- Scientists need samples from many different people for their studies.
- When planning a surgery, a person can contact the CMD-TR manager, Stacy Cossette, at firstname.lastname@example.org to find out how any extra tissue could possibly be donated instead of discarded from the procedure.
Individuals with the following diagnoses are encouraged to participate. Genetic confirmation of disease is not required and, there is no cost to you.
Congenital Muscular Dystrophy Subtypes
- Alpha 7 Integrin Related Myopathy
- Alpha 9 Integrin Related Myopathy
- Collagen VI Related Myopathy (Ullrich through Bethlem CMD)
- Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O)
- Choline Kinase B Receptor
- Dystrophinopathy (Duchenne and Becker Muscular Dystrophy)
- Limb-Girdle Muscular Dystrophies
- LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient)
- LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy)
- SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy)
- SYNE1 (Nesprin Related Muscular Dystrophy)
- Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)
- CMD Undiagnosed (including Merosin Positive)
Congenital Myopathy Subtypes
- Actin aggregation myopathy
- Cap disease
- Central core disease
- Centronuclear myopathy
- Congenital fiber type disproportion
- Core rod myopathy
- Hyaline body myopathy
- Multiminicore myopathy
- Myofibrillar myopathy
- Myotubular myopathy
- Nemaline myopathy
- Reducing body myopathy
- Spheroid body myopathy
- Tubular aggregate myopathy
- Zebra body disease myopathy
- Congenital Myopathy with unknown subtype
Congenital Myasthenic Syndrome and Myofibrillar Myopathy (all subtypes)
Tissue that is donated to the CMD-TR will be safely stored and scientists will be able to request this tissue for their research studies. Portions of your donated tissue will be distributed for important scientific projects. Information related to the sample that we get from you, such as how your disease affects you and any known genetic variations, may be shared with researchers, but personally identifying information will not be shared.
The CMD-TR takes the privacy and confidentiality of each tissue donor very seriously. We use the following measures to protect the privacy of participants:
- Assign a code number to each sample.
- Remove donor’s name and any personally identifying information for cataloguing purposes.
- Follow strict guidelines that forbid us from distributing any personally identifying information to scientists receiving samples.
The CMD-TR will require some identifying information, such as the participant’s name, birth date, and your email address/phone number, in order to perform the consenting process and manage banked tissue. Your private information will not be shared with scientists.
- The easiest way to donate is for us to request that your left-over biopsy tissue that is stored elsewhere be transferred to the CMD-TR. We make arrangements directly with the medical facility for you.
- Another way is through a surgical procedure such as scoliosis surgery, contracture release, or other surgery. Arrangements are made in advance for a sample to be obtained from the extra tissue that is no longer needed after diagnostic testing is complete. This would pose no extra risk to you or your family member