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“Kacper fue diagnosticado con deficiencia de surf1 en mayo de 2018. Toda nuestra vida cambió ese día, pero sabíamos que no podíamos rendirnos y teníamos que luchar por medicamentos o terapia para salvar a nuestro hijo. Mucho, no me doy por vencido, sigue siendo un niño feliz y sonriente, y creemos firmemente que nuestro hijo y todos los niños con síndrome de Leigh recibirán su cura a tiempo".
Acelerador de curas de enfermedades raras: plataforma de datos y análisis
RDCA-DAP es una iniciativa financiada por la FDA que proporcionará una infraestructura centralizada y estandarizada para respaldar y acelerar la caracterización de enfermedades raras con el objetivo de acelerar el desarrollo de terapias.
Critical Path Institute (C-Path) and Cure Mito Foundation (Cure Mito) today announced a joint collaboration to significantly promote data sharing and accelerate Leigh syndrome and other rare mitochondrial disease data incorporation into C-Path’s Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®).
Leigh syndrome, also known as Leigh disease, is a Mitochondrial disorder that affects about 1 out of 77,000 live births, with symptoms often appearing within the first year of life. It is a debilitating neurological disorder that can affect the development of mobility, posture and mental capacities in children, with these capabilities occasionally being lost after a period of seemingly normal growth. Though unusual, symptoms may not show until the early adult years, while others may show gradual signs throughout infancy.
“Progress towards the establishment of approved therapies for people with Leigh syndrome and other rare mitochondrial diseases is reliant on the participation of organizations like the Cure Mito Foundation,” said RDCA-DAP Scientific Director Alexandre Betourne, Ph.D., Pharm.D. “This is a laudable step in that direction, and we are thrilled to be partnering with Cure Mito to promote data sharing, standardization and develop tools that will accelerate the development of treatments for Leigh syndrome and other mitochondrial disorders.”
“Patients enroll in registries and research studies hoping that their participation will matter,” said Sophia Zilber, Cure Mito board member. “Cure Mito Foundation recognizes this and is committed to advancing the way data is collected, accessed and used, and empowering the patient community to be informed and active contributors of their data to advance research, treatments and eventually cures. We are proud to partner with C-Path in these important and much needed efforts.”