What are the goals of the CFR?
The CFR has 4 main goals:
Identify individuals with single large-scale mitochondrial deletion disorders, such as Pearson syndrome, Kearns-Sayre syndrome, and CPEO
Gather past and future information on individuals with SLSMD through voluntary registration, self-reported survey questionnaires, patient-mediated medical record collection, and optional biospecimen sharing
Make data collected through the CFR available to researchers and clinicians who are studying SLSMD disorders to answer questions regarding the disease, including its causes, potential treatments, and other topics
Be the primary hub of clinical trial recruitment for individuals with SLSMD disorders