Hereditary spastic paraplegia 50
MONDO:0013048Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.
Also known as: AP4M1 hereditary spastic paraplegia, SPG50, Spastic Paraplegia 50, hereditary spastic paraplegia caused by mutation in AP4M1, hereditary spastic paraplegia type 50, cerebral palsy, spastic quadriplegic, 3, cerebral palsy, spastic quadriplegic, 3, formerly, spastic paraplegia 50, autosomal recessive
5 clinical trials for this condition and its sub-types, 3 tagged with Hereditary spastic paraplegia 50 itself.
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Gene therapy aims to halt rare childhood paralysis disorder
Disease control Recruiting nowThis 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. …
Phase 1/2 • Sponsor: Elpida Therapeutics SPC • Aim: Disease control
Last updated Jul 10, 2026 00:00 UTC
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Hope for kids with rare paralysis: gene therapy trial launches
Disease control Recruiting nowThis 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…
Phase 3 • Sponsor: Elpida Therapeutics SPC • Aim: Disease control
Last updated Jun 27, 2026 12:10 UTC
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Scientists launch major effort to track rare nerve disease in children
Knowledge-focused Recruiting nowThis 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…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC