Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization

Leigh syndrome is a rare, progressive neurometabolic disorder caused by pathogenic variants in over 110 mitochondrial or nuclear genes. Its clinical and genetic heterogeneity creates challenges for diagnosis, care, and research. Cure Mito Foundation, a parent-led nonprofit established in 2018 to develop a gene therapy for SURF1-related Leigh syndrome, has since evolved into a global organization supporting individuals and families worldwide affected by all forms of Leigh syndrome. This article describes the multifaceted efforts of Cure Mito Foundation to accelerate research and support for Leigh syndrome through family-led engagement and collaborative scientific partnerships. Strategies include funding the development of diverse disease models, gene therapies, drug repurposing pipelines, and a global patient registry. Emphasis is placed on co-production with affected families, sharing of biospecimens and data, and alignment with regulatory and research standards. The Leigh Syndrome Global Patient Registry comprises over 400 participants from 48 countries, with data made available to qualified researchers, and results shared regularly with the patient community to promote transparency and trust. Notable research accomplishments of Cure Mito include facilitating the development of multiple gene therapy candidates, patient-derived organoids and animal models, and repurposed drugs now entering early-phase trials. Cure Mito also played a key role in the launch of the Mitochondrial and Inherited Metabolic Disease Taskforce, led by the Critical Path Institute (C-Path), to integrate registry and clinical data into the Rare Disease Cures Accelerator platform. Additional efforts include community-developed educational tools, international awareness campaigns, and support programs tailored to the unique needs of Leigh syndrome families. Through relentless effort and dedication, the Cure Mito Foundation has shown that a small group of determined individuals can drive extraordinary change. By building a global patient registry, advancing data sharing and research, developing patient-centric education and support, and facilitating collaboration among scientists, clinicians, and families, the Foundation has created momentum toward effective treatments. With support from the Chan Zuckerberg Initiative’s Rare As One grant, Cure Mito is poised to expand its impact even further. Leigh syndrome is a severe genetic disorder that begins in early childhood and leads to the gradual loss of physical and developmental abilities. It can be caused by variations in over 110 different genes and can affect multiple organs and systems in the body. Cure Mito Foundation is a nonprofit organization founded by parents of children with Leigh syndrome. Since its inception in 2018, the Foundation has evolved into a global initiative to support children and families affected by this rare condition. This article highlights the Cure Mito Foundation’s efforts to advance research and provide support to families. The Foundation partners with scientists to explore potential treatments, including gene therapy, drug repurposing, and mitochondrial genome editing. It also established a global patient registry to collect valuable data from families, enabling researchers to better understand Leigh syndrome. The latest registry findings are included in this report. Importantly, families are not only participants in research - they also help guide it. Cure Mito ensures that patient and caregiver voices influence decisions, promote knowledge sharing, and foster a sense of support and community. The Foundation also offers practical resources for healthcare providers, caregivers, and families, including educational videos, a family planning guide, and a directory of medical experts. Through international collaboration and a strong, engaged community, Cure Mito Foundation is accelerating progress toward better care and future cures.