果冻影院

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)

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 patients provide a central resource for scientists who study muscle diseases. The CMD-TR can transfer in your left-over muscle biopsy tissue, too.

The CMD-TR is a place to store body tissue samples 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 biorepository is located at the 果冻影院 in the USA in the Lawlor Research Laboratory with state-of-the-art equipment and expert staff.

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.

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.

 

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 with your written request. Tissue and information that has already been distributed cannot be reclaimed.

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:

1. Assign a code number to each sample.
2. Remove donor鈥檚 name and any personally identifying information for cataloguing purposes.
3. 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鈥檚 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.

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.

No. This is tissue that was collected during a procedure already ordered by your doctor, so there is no additional risk or pain. For example, many people with a muscle disorder had a muscle biopsy done in the past.  Sometimes, there is tissue left-over that can be transferred to the CMD-TR.

1. 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.
2. 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

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.

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.