AP-4 deficiency syndrome
MONDO:0100176A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.
Also known as: AP-4 deficiency syndrome
3 clinical trials for this condition and its sub-types, 0 tagged with AP-4 deficiency syndrome itself.
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Sub-types of AP-4 deficiency syndrome
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Hereditary spastic paraplegia 50 3 trials
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Hereditary spastic paraplegia 47 1 trial
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Hereditary spastic paraplegia 51 1 trial
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Hereditary spastic paraplegia 52 1 trial
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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