Hereditary spastic paraplegia 50

This trial tests whether using ultrasound to guide botulinum toxin injections into spastic leg muscles works better than the standard method of relying on touch and anatomical landmarks. Researchers will give 40 adults with spastic paraplegia two rounds of injections, one with ea…

This trial tests a single injection of MELPIDA, a gene therapy that delivers a working copy of the AP4M1 gene directly into the spinal fluid of children with SPG50. SPG50 is a rare genetic condition that causes muscle stiffness, intellectual disability, and developmental delays. …

This phase 3 trial tests a one-time gene therapy called MELPIDA for children with SPG50, a rare genetic disease that causes progressive paralysis and developmental delays. The study will give the treatment via a spinal injection to 24 children aged 4 months to 6 years and compare…

This study follows thousands of people with ataxia, hereditary spastic paraplegia, and spastic ataxia, rare conditions that cause progressive problems with walking, balance, and coordination. Researchers will track how symptoms evolve using clinical exams, patient reports, digita…

This study collects health information and biological samples from up to 700 people under 30 with early-onset hereditary spastic paraplegia (HSP). Researchers aim to better understand how the disease progresses over time and create a registry for future studies. Participants prov…