IRB protocols have been approved and the database is
currently being built. The repository will have partial
availability 04/01/06, and we project the complete repository
will become available 07/01/06.
There will be a handling fee required to defray shipping
costs as well as an application form.
The Muscle Tissue/Cell Culture/Diagnostics Core is a
multifaceted laboratory that will be both a local and a national
resource for muscular dystrophy research. There are two major
goals of the core. First, the Core will use approximately 4000
existing stored skeletal muscle biopsies to establish a muscle
tissue repository. Among the existing muscle biopsies are more
than 600 muscular dystrophy samples that include
dystrophinopathies (Duchenne and Becker muscular dystrophy),
limb-girdle muscular dystrophies, and congenital muscular
dystrophies. We will accrue new specimens into the Core from a
variety of sources: diagnostic muscle biopsies, therapeutic
surgical procedures, endomyocardial biopsies, heart explants,
skin biopsies, and autopsies. In addition to these tissues, we
will establish fibroblast and myoblast cell lines from
diagnostic muscle and skin biopsies. Patients with genetically
defined muscular dystrophies will be recruited to undergo
biopsies in order to maintain a widely representative spectrum
of muscular dystrophy diagnoses. Well characterized tissues and
cells from the Core will be made available to research
investigators from other centers. The second goal of the Core is
to establish a diagnostic resource. In this capacity it will
provide diagnostic services that are not readily available
through clinical laboratories, it will facilitate development of
new diagnostic tests for transfer to the clinical laboratory,
and will serve as a post-intervention biopsy evaluation resource
for investigators conducting clinical trials. The Core will
maintain patient confidentiality, and all testing will be
quality controlled to meet CLIA licensing standards. Thus, the
Muscle Tissue/Cell Culture/Diagnostics Core will establish a
vital resource of muscular dystrophy tissues and cell cultures,
provide a critical diagnostic link in expanding the number of
patients with specific molecular diagnoses, and serve as a
national biopsy testing resource for clinical trials in muscular
dystrophy patients.