Champ Foundation Registry
The CFR is a research study to investigate single large-scale mitochondrial DNA deletion (SLSMD) disorders, such as Pearson syndrome, Kearns-Sayre syndrome, and CPEO.
If you or your child is affected by a SLSMD disorder, you have the knowledge and power to advance research by your voluntary participation in the CFR by registering at cfr.thechampfoundation.org. Your data can help illuminate new paths toward better treatments and a cure.
The goals of the CFR include:
- Identify individuals with SLSMD disorders
- Gather data through voluntary registration, self-reported survey responses, patient-mediated medical record collection, and optional biospecimen sharing
- Make data available to researchers and clinicians who are studying SLSMD disorders to answer questions regarding the disease, including its causes, treatments, and other topics
- Be the primary hub of clinical trial recruitment for individuals with SLSMD disorders
Research and Publications using CFR Data
Reynolds, E., Byrne, M., Ganetzky, R., & Parikh, S. (2021)
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.
Molecular Genetics and Metabolism.