APTEEUS is currently starting two new challenges aimed at repositioning drugs for children suffering from hereditary metabolic disorders.
Calixte, 11 years old has just been diagnosed with an SMA-PME, understand spinal muscular atrophy with progressive myoclonic epilepsy. This pathology is caused by a genetic mutation in the gene encoding a lysosomal ceramidease. The accumulation of ceramides affects motor neurons and is responsible for the neurological symptoms.
Lino, 8 years old, suffers from a deficiency of fumarase, a mitochondrial enzyme that produces energy in our cells. Since its birth, Lino’s cells have suffered from an energy deficit that disrupts its development.
Organizations built up around these children are supporting the projects:
ASAP for Children for SMA-PME et Farber disease.
Ma Fumarase, Mon Energie for the fumarase deficiency.
Campus Institut Pasteur de Lille,
1 rue du Professeur Calmette
59000 Lille – France