Dear Champ Supporters,
We hope you are doing well and staying healthy. It has been a while since we sent our last newsletter on Feb. 3. On that day, we announced the Chan Zuckerberg Initiative awarded The Champ Foundation a $450,000 grant to develop and launch a collaborative research network to find treatment and a cure for single large-scale mitochondrial DNA deletion diseases, like Pearson syndrome.
Here’s what we have been up to over the past 6 months.
Champ Foundation Registry (CFR)—August 2020
We launched the CFR. 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.
The CFR has 4 main goals:
1. Identify individuals with single large-scale mitochondrial deletion disorders
2. 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
3. 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
4. Be the primary hub of clinical trial recruitment for individuals with SLSMD disorders
We already have had enough individuals register to make this the most comprehensive dataset of individuals with Pearson syndrome and SLSMD disorders. We are incredibly grateful to the families participating because we know the CFR data will help research and clinical trial progress more quickly and more efficiently and be a powerful tool for trials, treatments, and improved care.
Research Funding—July 2020
In collaboration with the Associazione Luigi Comini Onlus, we provided a $159,310 grant to Dr. Suneet Agarwal’s lab at Boston Children’s Hospital. The Associazione Luigi Comini is an Italian non-profit organization founded by the family of Renato Comini, who has Pearson syndrome. Below are the details of that research grant.
Title: Towards genome-wide screens to identify new drug targets in single large-scale mtDNA deletion syndromes
Abstract: Mitochondria are structures in our cells that perform numerous critical functions, including serving as the cell's energy production source or powerhouse. Unique among other structures in the cell, mitochondria have their own genome, called mitochondrial DNA (mtDNA). In a number of rare genetic diseases, there are mutations in mtDNA, resulting in defects in mitochondrial function, failure of cells and organs, and ultimately sickness and death. There are no effective therapies for mtDNA diseases. In single large-scale mtDNA deletion (SLSMD) disorders, such as Pearson syndrome and Kearns-Sayre syndrome, large segments of mtDNA are missing in some genomes, intermingled with normal mtDNA. In some cell types, we can see a shift in the balance of mutant to normal mtDNA over time, which correlates with disease improvement. In this study we aim to understand how the proportion of mutant mtDNA versus normal mtDNA can be shifted. Specifically, our proposal aims to develop new ways to 'count' mutant mtDNA in PS patient cells reliably. Such a tool would lead us to apply thousands of different treatments to PS cells and identify which of these will eliminate mutant mtDNA. If successful, these studies are expected to lead to new treatments for PS and a range of mitochondrial disorders.
Request for Proposals—Released June 2020, Proposals due September 18, 2020
We released another RFP to find and fund the most innovative research projects to find better treatment and a cure for diseases caused by single large-scale mitochondrial DNA deletions (SLSMD) disorders.
Proposals are due on September 18 and they are considered on the following criteria: (1) The probability of an advance in cure or treatment of mitochondrial DNA deletion diseases in the near term; (2) Qualifications, experiences, and abilities of the applicants; (3) The conceptual basis upon which the proposal rests; (4) The novelty of the concept and strategy; (5) Clarity and thoughtfulness of the application; (6) Adequacy of resources and environment (facilities available, access to patient samples if needed, data management, and data analysis, etc.)
We are excited to get more research going!
Pearson Syndrome Conference—May 29, 2020
We hosted our second Pearson Syndrome Conference (virtually) in late May 2020. We had over 50 attendees from Boston Children's Hospital, Children’s Hospital of Philadelphia, Duke, Sheba Medical Center, Cleveland Clinic, University of Cambridge, Glasgow, and Great Ormond Street Hospital, as well as industry involvement from Minovia Therapeutics, Albliva (formerly NeuroVive), and Aceras Biomedical. The accomplished goals of the conference were to (1) introduce the Pearson Syndrome Research Network, (2) describe the current state of Pearson syndrome research, and (3) determine endpoints for the Champ Foundation Registry and future Natural History Studies.
Successful Virtual Run and June Fundraiser—May and June 2020
Despite unprecedented global uncertainty, our first Run Where You’re From event had over 200 runners around the world and raised over $7,500. Our June fundraising campaign raised over $31,000 in 22 days. Thank you to the families of Camden, Ryota, Luca, Maddie, Windland, Lidka, Moshe, Ray, Mila, Rylan, and Sini who helped make this fundraising campaign such a success. Thank you to all our #ChampStrong supporters who donated and participated in these events. Every dollar raised from these events is helping support research to find treatment and a cure for SLSMD disorders, like Pearson syndrome.
The Champ Foundation was founded in 2015 in honor of William Reynolds. William was diagnosed with Pearson syndrome at 2-months-old. At age four, William developed myelodysplastic syndrome (MDS). He is not the first child with Pearson Syndrome to receive a secondary diagnosis of MDS.
William received a bone marrow transplant in September 2019 to treat MDS, about a week after we submitted our application for the CZI grant. We learned about our successful application in the throes of recovery from chemo- and BMT-related side effects, and around day 60 of his hospital stay. We announced the CZI funding on the day his central line was removed, a huge step toward recovery.
Today, we are (cautiously) celebrating William’s complete recovery from his bone marrow transplant. He is doing all the things we dreamed about while he was hospitalized. He runs and plays with his brother, he learned how to swim, and most importantly, he is happy!
Center of Excellence funding for Natural History Studies
The Champ Foundation is establishing Pearson Syndrome Centers of Excellence. Participating centers will see Pearson syndrome patients for clinical evaluation, develop and provide standardized clinical care, contribute to Champ Foundation Registry, and closely collaborate with other centers in the Pearson Syndrome Research Network.
Travel grants for families to travel to centers
The Champ Foundation aims to provide travel grants to families to travel to Centers of Excellence. The goals of these grants are to (1) improve and standardized clinical care for all children with Pearson syndrome and (2) build a more robust data set within the CFR to include clinical outcomes.
Thank you for joining our fight against Pearson Syndrome and SLSMD disorders. We are so lucky to have you in our corner.
Elizabeth and Jeff Reynolds
Co-Founders, The Champ Foundation