Hereditary spastic paraplegia 47
MONDO:0013551Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.
Also known as: AP4B1 hereditary spastic paraplegia, SPG47, Spastic Paraplegia 47, hereditary spastic paraplegia 47, hereditary spastic paraplegia caused by mutation in AP4B1, hereditary spastic paraplegia type 47, cerebral palsy, spastic quadriplegic, 5, cerebral palsy, spastic quadriplegic, 5, formerly
3 clinical trials for this condition and its sub-types, 1 tagged with Hereditary spastic paraplegia 47 itself.
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Can ultrasound make botox injections more precise for stiff muscles?
Disease control Recruiting nowThis 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…
Phase 4 • Sponsor: Universidade Federal Fluminense • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Can a massive natural history study unlock the secrets of rare movement disorders?
Knowledge-focused Recruiting nowThis 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…
Sponsor: Heidelberg University • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 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