image: Cure Mito Foundation and Hope for PDCD Foundation announce a patient registry collaboration
Credit: cure mito foundation and hope for pdcd foundation
March 18, 2024 – Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry. This innovative registry will be led by the Hope for PDCD foundation and hosted on the same registry platform as the well-established Leigh Syndrome patient registry, developed by the Cure Mito Foundation. This strategic move is aimed at enhancing patient convenience and improving data alignment and research effectiveness.
Both Leigh syndrome and PDCD are types of primary mitochondrial diseases mainly affecting children. There is an overlap between two conditions, with around 25-35% of PDCD patients also having Leigh syndrome, according to published literature.
Both registries will be hosted on the Sanford CoRDS registry platform. Sanford CoRDS is the largest, free international rare disease registry. It works to connect participants, advocacy groups and researchers in the field.
By hosting both registries on the same platform, we are reducing the burden on patients and caregivers. Now, individuals affected by either or both conditions can register and answer many questions just once, streamlining their participation in crucial research efforts. This integration not only eases the process for patients and families but also allows for better alignment and comparison of data across different but potentially related conditions. This will help accelerate research and ultimately improve outcomes for patients.
Frances Muenzer Pimentel, founder of the Hope for PDCD foundation and mom to Violet, who has PDCD, said: “Hope for PDCD is thrilled to launch the first ever international and patient initiated registry for PDCD on the CoRDS platform in conjunction with Cure Mito. Launching on CoRDS with Cure Mito allows the 25-35% of PDCD patients that also have a Leigh Syndrome diagnosis to complete both registries on one platform. This registry will become a powerful tool to better understand the disease and to help support the development of treatments and participation in clinical trials. The registry also signals to industry and academia that we are an organized and unified patient population in urgent need of a standard of care and effective treatments.”
"Patient registries are valuable sources of information not only for physicians, researchers, and families, but also for industry partners who are working to better understand the complexities of rare diseases.” explained Sue Clement, Senior Director at Saol Therapeutics, “We are pleased that Hope for PDCD is working with Cure Mito to create a registry with the goal to advance treatments, optimize care, and ultimately improve the lives of those with PDCD."
Sophia Zilber, board member and patient registry director of the Cure Mito Foundation, said, “The concept of merging data from various registries is frequently discussed within the rare disease community. However, this is a complex task that requires a foundational alignment of data collection methods right from the start. Our collaboration is pivotal in facilitating this alignment. Since the inception of our Leigh syndrome patient registry two years ago, we have witnessed remarkable advancements and insights. With this collaborative effort, we are enthusiastic about replicating this success within the PDCD community and across our broader community.”
The unified registry platform will facilitate deeper insights into PDCD and Leigh Syndrome, potentially unveiling commonalities that could lead to more effective treatments. It also opens avenues for patients to participate in a broader range of studies and trials relevant to their conditions.
Patients and caregivers interested in joining the registry can expect a user-friendly interface, robust data security, and the opportunity to contribute directly to the advancement of medical research. By participating, they become vital partners in the quest to understand and treat these complex diseases.
For more information about the PDCD patient registry, Leigh Syndrome patient registry, or to register, please contact info@curemito.org and info@hopeforpdcd.org.
About Cure Mito Foundation:
Cure Mito Foundation is a parent-led 501(c)(3) nonprofit organization that was founded in 2018 by a group of families determined to fight for their children’s lives. Cure Mito’s mission is to unite the global Leigh syndrome community to accelerate patient-centered research, treatments, and cures. Cure Mito has an international reach with patients from over 35 countries, currently a part of the Leigh syndrome global patient registry that Cure Mito has developed. Cure Mito funds promising research and strengthens and unites the community through such initiatives as its annual Leigh syndrome symposium and informational website AboutLeighSyndrome.com. Cure Mito is a member of Defense Health Research Consortium, COMBINEDBrain, Global Genes Foundation Alliance, Everylife Foundation Community Congress, and Indo US Rare Organization for Rare Diseases. Cure Mito has been rated as a Top-Rated Nonprofit by @GreatNonprofits. For more information please visit: curemito.org or follow Cure Mito on LinkedIn | Twitter | Facebook | Instagram.
About Hope for PDCD foundation:
Hope for PDCD was founded by PDCD patients and parents in 2022 with an urgent mission: to cure a fatal disease known as Pyruvate Dehydrogenase Complex Deficiency. All financial gifts are invested wisely: 100% of every dollar donated goes to research and advocacy efforts for PDCD. Hope for PDCD has quickly grown into a collective of volunteer parent board members, scientific advisors, and industry partners. Hope for PDCD aims to fund a multi-million dollar research project into new therapeutics for PDHA1 mutations, newborn screening, standards of care, the first ever PDCD-specific patient registry, biomarkers and clinical endpoints. Hope for PDCD serves the PDCD patient community by offering a state-by-state clinician directory, free genetic testing, resources on the ketogenic diet and more. Find out more at hopeforpdcd.org