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| Find a Clinical Trial |
| Principal Investigator: | Alan Beggs |
| Trial Description: | We are taking two approaches to better understand the cause of the congenital myopathies. The first involves identifying and characterizing new skeletal muscle genes and proteins (gene products). Our second approach is to identify mutations (changes in genes), how they are inherited in families, and understand how they lead to weakness in affected individuals. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals. We hope our research will lead to improved diagnosis and treatments of these conditions, which can be devastating for some families. |
| Recruitment Info: | Children and adults of any age who have a suspected diagnosis of:
" Nemaline myopathy
" Congenital fiber type disproportion
" Myotubular/Centronuclear myopathy
" Multicore/minicore myopathy
" Other undefined congenital myopathies/neuromuscular conditions (please inquire).
Unaffected family members are also invited to participate, particularly parents, brothers/sisters, and children. Participants are asked to provide a small sample of blood or saliva for genetic study and a small piece of muscle from a previous muscle biopsy when possible. Relevant medical records are also requested. The study is free to participants and there is no financial compensation for enrollment.
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| Recruitment Contact Name: | Elizabeth Taylor DeChene, MS CGC |
| Recruitment Contact Phone: | 617-919-2169 |
| Recruitment Contact Email: | edechene@enders.tch.harvard.edu |
