The Champ Foundation
Forging new paths forward
Rare diseases have no better advocates than patients and caregivers. In 2015, Elizabeth and Jeff Reynolds’ son was diagnosed with Pearson Syndrome. At the time, there was no treatment, no clinical trial, and no research being conducted. Since then, Elizabeth and Jeff have launched The Champ Foundation, funded some of the most exciting mitochondrial disease research in the world, and advocated for all families affected by Pearson Syndrome. Elizabeth says, “The Champ Foundation’s most rewarding experiences have been encouraging and advocating for other families to forge their own paths forward.”
Pearson Syndrome is an ultra-rare multisystem disorder caused by deletions in mitochondrial DNA. Symptoms such as pancreatic insufficiency, endocrine abnormalities, renal insufficiency, cardiac conduction defects, hearing or vision loss, and metabolic crises begin at birth or in early childhood, often with bone marrow failure. Recently, the first-ever clinical trial for Pearson Syndrome began in Israel, and The Champ Foundation helped to connect the team in Israel to a network of scientists that could provide crucial information and advice.
The primary impediment to the development of a cure for Pearson Syndrome is the poor understanding of the disease. The development of a research network will provide data to illuminate new pathways for potential therapies. The Champ Foundation will position itself as an aggregator of patient’s knowledge and disseminate it to researchers and clinicians at every opportunity. By providing patient data from the network to its primary clinician, researcher, and other researchers interested in pursuing treatments, the organization will be equipped to overcome this obstacle and find a cure.
Research Progress & Capacity Building Updates
The limited understanding of the natural history of Pearson syndrome and mtDNA deletion syndromes was a barrier to finding treatment and a cure. To overcome this, the Champ Foundation built a research-enabling tool called Champ Foundation Registry. This Registry addresses the lack of coordinated information and connects multiple sources of data from families, clinicians, and researchers. Data includes electronic medical records, biospecimen data, natural history study outcomes, and patient reported survey data. Remarkably, over 90 individuals with Pearson syndrome and mtDNA deletion disorders have registered and submitted valuable data.
“The Champ Foundation's most rewarding experiences have been encouraging and advocating for other families to forge their own paths forward.”