Who can participate?
Individuals with the following diagnoses are encouraged to participate. Genetic confirmation of disease is not required, there is no cost to you, and it’s harmless.
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
- 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
What is a Biobank/Repository?
Biobanks and repositories are places to store samples from the body. The Congenital Muscle Disease Tissue Repository (CMD-TR) collects, stores, and redistributes tissue samples from surgeries and autopsies to provide a central resource for scientists who study muscle diseases. The CMD-TR can transfer in your left-over muscle biopsy tissue, too. We also can establish cell lines from fresh tissue.
About the Congenital Muscle Disease Tissue Repository (CMD-TR)?
The CMD-TR is a place to store body tissues collected during surgeries or autopsies that can be used for research to help understand more about the muscle disorder, and to help develop treatments and cures for congenital muscle diseases. This repository is located at the Medical College of Wisconsin (USA) in the Lawlor Lab with state-of-the-art equipment and expert staff.
Why should I donate a sample to the CMD-TR?
The congenital muscle diseases are rare, so it is difficult for scientists to obtain samples for their research. That is what makes your tissue donation such an important gift. Scientists need tissue to understand the disease better and work toward a treatment. Having human tissue allows scientists to test muscle samples, gain greater insight into how the different organs are potentially affected (heart, brain, intestine, nerve, liver), what happens in these tissues over time, and how cells from other areas of the body might respond to treatment strategies.
What happens to my sample once it is donated?
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 the severity of your disease and any known genetic variations, may be shared with researchers, but personally identifying information will not be shared.
What if I change my mind after donating tissue to the CMD-TR?
You have the opportunity to discontinue your enrollment in the CMD-TR at any time. The information and any tissue banked on-site will be removed. Tissue and information that has already been distributed cannot be reclaimed.
How does the CMD-TR maintain my privacy and confidentiality?
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 getting the 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.
Does it cost money to donate a sample?
No. The CMD-TR will cover the costs associated with tissue collection and transfer to us, as our goal is to prevent any cost to you.
Does it hurt to donate a sample to the CMD-TR?
No. This is tissue that was collected during a procedure already ordered by your doctor, so there is no additional risk or pain. Most people with a muscle disorder had a muscle biopsy done in the past. Often times, there is some tissue left-over that can be transferred to the CMD-TR.
How do I donate a sample to the CMD Tissue Repository?
There are a few ways in which a donation can be made:
The easiest way to donate is when we 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.
Another way is through a surgical procedure such as cardiac transplant, scoliosis surgery, or contracture release. Arrangements are made in advance for a sample to be obtained from discard tissue (not clinically useful). This would pose no extra risk to you or your family member.
Another method of obtaining tissue and organ samples would be during autopsy.
Finally, we can help coordinate a donation of blood for the establishment of cell lines at the CMD BioBank, which can either be done during a medical procedure or as a separate blood draw.
What if my muscle tissue is currently stored at a medical research facility that is investigating my muscle disease subtype?
The CMD-TR will not request tissue from a research facility conducting studies on your subtype, because our purpose is to make tissue available to scientists, not take it away from scientists. There may be an opportunity to donate new tissue when you have surgery in the future, so it is recommended that you consent for tissue donation with the CMD-TR.
What if I'm enrolled in study with another research facility?
You are encouraged to enroll in as many research studies and programs as you like. The more you are involved with, the greater your impact, and the more that can get accomplished.