CACNA1A-related complex neurodevelopmental disorder
MONDO:0100254A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.
11 clinical trials for this condition and its sub-types, 1 tagged with CACNA1A-related complex neurodevelopmental disorder itself.
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Sub-types of CACNA1A-related complex neurodevelopmental disorder
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Spinocerebellar ataxia type 6 9 trials
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Episodic ataxia type 2 1 trial
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Migraine, familial hemiplegic, 1 1 trial
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Brain implant that learns could help rare movement disorder
Disease control Recruiting nowThis early study tests whether a smart brain implant can help people with spinocerebellar ataxia type 6, a condition that causes trouble with balance and coordination. Five adults will get the implant, which records brain signals and adjusts stimulation automatically. The goal is…
Sponsor: University of Florida • Aim: Disease control
Last updated Jul 22, 2026 00:00 UTC
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Brain implant adapts in real time to help ataxia patients move better
Disease control Recruiting nowThis early study tests whether a deep brain stimulator placed in the cerebellum can safely improve movement and balance in 5 adults with spinocerebellar ataxia type 6. The device automatically adjusts its stimulation based on the person's brain signals. The goal is to see if this…
Sponsor: University of California, San Francisco • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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Could a simple amino acid ease rare brain disorders?
Symptom relief Recruiting nowThis study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…
Phase 3 • Sponsor: IntraBio Inc • Aim: Symptom relief
Last updated Sep 10, 2026 00:00 UTC
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Can we predict how genetic ataxias progress?
Knowledge-focused Recruiting nowThis study follows people with several types of spinocerebellar ataxia (SCA) — rare genetic diseases that cause balance, coordination, and speech problems — to learn how these conditions change over time. Researchers will collect blood samples, perform neurological exams, and use…
Sponsor: Lauren Moore • Aim: Knowledge-focused
Last updated Aug 05, 2026 00:00 UTC