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Glutamate pyruvate transaminase 2 deficiency
MONDO:0014567Also known as: GPT2 Deficiency, GPT2 deficiency, glutamate pyruvate transaminase 2 deficiency, mental retardation, autosomal recessive 49, mental retardation, autosomal recessive type 49, neurodevelopmental disorder with microcephaly and spastic paraplegia, postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
2 clinical trials for this condition and its sub-types, 0 tagged with Glutamate pyruvate transaminase 2 deficiency 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