“Kacper foi diagnosticado com deficiência de surf1 em maio de 2018. Toda a nossa vida mudou naquele dia, mas sabíamos que não podíamos desistir e tivemos que lutar por remédios ou terapia para salvar nosso filho. muito, eu não desisto, ele ainda é um menino feliz e sorridente, e acreditamos fortemente que nosso filho e todas as crianças com Síndrome de Leigh receberão sua cura a tempo."
Plataforma de dados e análise do acelerador de curas de doenças raras
O RDCA-DAP é uma iniciativa financiada pela FDA que fornecerá uma infraestrutura centralizada e padronizada para apoiar e acelerar a caracterização de doenças raras com o objetivo de acelerar o desenvolvimento 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.”