This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. To develop a registry of and database of information regarding a large cohort of patients with clinically-diagnosed dystrophinopathies to include: dystrophingene mutation; reliable phenotypic information, gathered prospectively and longitudinally; historical data on disease course, treatment, and response; contact information for individual families, and their response as to whether or not the family wishes to be notified of clinical trials for which the patient is eligible; information on dystrophin protein expression in muscle from patients; to provide carrier testing to female relatives who are at risk of carrying a dystrophin gene mutation and are age 18 and greater who are asymptomatic; younger than age 18 and symptomatic, to confirm the symptoms as representing a manifesting carrier state; to provide genetic counseling to families of patients and carriers regarding their mutation status; to establish a database of dystrophin gene polymorphisms and mutations, including frequencies of polymorphisms, accessible to researchers worldwide.
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