Phase 12 Study of MELPIDA Gene Therapy Delivered Into the Spine for Children With Spastic Paraplegia Type 50 Caused by AP4M1 Gene Mutation

What this Trial Is About

This research aims to evaluate MELPIDA, a gene therapy for treating Spastic Paraplegia Type 50 SPG50, a rare inherited neurodegenerative disorder caused by mutations in the AP4M1 gene. SPG50 leads to progressive muscle stiffness, cognitive impairment, and severe disability starting in early childhood, with no current treatments available. The study focuses on safety and tolerability, as well as exploring effects on disease severity in affected children. MELPIDA delivers a functional copy of the AP4M1 gene using a single intrathecal injection of a recombinant adeno-associated virus AAV vector. The therapy targets neuronal cells to counteract neuronal loss caused by the disease. Participants will receive this gene therapy as the only treatment arm. The study follows an open-label design and lasts up to five years to assess long-term safety and potential clinical benefits. Participants will be closely monitored with evaluations including neurological exams and spasticity assessments using the Modified Ashworth and Tardieu scales. Safety will be measured by tracking adverse events related to treatment over 60 months. The trial includes genetic confirmation, clinical assessments, and long-term follow-up to understand the therapys impact on disease progression and patient health. Overall participation may extend up to five years.

Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)