Molecular and Genetic Studies of Congenital Myopathies
Central Core Disease
Congenital Fiber Type Disproportion
Rigid Spine Muscular Dystrophy
Undefined Congenital Myopathy
|Study Design:||Observational Model: Case-Only|
|Official Title:||Molecular Analysis of Neuromuscular Disease|
- Identification of Neuromuscular Disease Genes [ Time Frame: The time frame for disease gene discovery is unpredictable and may range from several days to several decades. ]This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.
- Characterization of Clinical Features of Congenital Myopathies [ Time Frame: The time frame for disease classifacation and genotype-phenotype correlation is unpredictable and may range from several days to several decades. ]As known as known and new disease genes are identified the resulting genotypes are correlated with subject phenotypes.
Biospecimen Retention: Samples With DNA
|Study Start Date:||August 2003|
|Estimated Study Completion Date:||January 2050|
|Estimated Primary Completion Date:||January 2050 (Final data collection date for primary outcome measure)|
The Congenital Myopathy Research Program consists of a group of scientists and healthcare providers all working to better understand the congenital myopathies. We are taking two approaches to reach our research goals. The first involves identifying and describing new genes and proteins involved in the skeletal muscles that allow our bodies to move. Simultaneously, studies are underway to identify genetic changes (mutations) that cause human neuromuscular disease. Thus, our second approach is to identify mutations, learn how they are inherited in families, and understand how they lead to weakness in individuals with neuromuscular disease. These approaches allow correlation of our basic muscle biology findings with our studies on muscle tissue of affected individuals.
Our research would not be possible without the generous participation of individuals and families with congenital myopathies. Participation in our studies is free of charge. Travel to Boston is not required, and we welcome the participation of individuals from around the world.
We appreciate the participation of all individuals with a congenital myopathy, as well as their first-degree relatives. Participants with a congenital myopathy are asked to donate medical records, a blood or saliva sample, and a muscle tissue sample (if available). Participating relatives are asked to donate a blood sample. The blood/saliva sample is used to acquire DNA (genetic material) which can be used to identify genetic changes and to study how a disease is inherited in a family. The medical records are employed to understand a participant's symptoms. The muscle tissue is used to better understand the disease at the muscular level by studying the gene expression and protein levels in individuals with congenital myopathies.
For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00272883
|Contact: Casie Genetti, M.S. C.G.C.||(617) firstname.lastname@example.org|
|Contact: Beggs email@example.com|
|United States, Massachusetts|
|Genetics Division, Boston Children's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Casie Genetti, M.S. C.G.C. 617-919-2169 firstname.lastname@example.org|
|Principal Investigator: Alan H. Beggs, Ph.D.|
|Principal Investigator:||Alan H. Beggs, Ph.D.||Children's Hospital Boston/Harvard Medical School|