Pontocerebellar hypoplasia
MONDO:0020135Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.
Also known as: PCH, pontocerebellar hypoplasia, pontoneocerebellar atrophy, pontoneocerebllar hypoplasia, isolated pontocerebellar hypoplasia, nonsyndromic pontocerebellar hypoplasia
4 clinical trials for this condition and its sub-types.
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Massive data collection launched for brain surgery patients
Knowledge-focused Recruiting nowThis study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Aug 15, 2026 00:00 UTC
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Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 12, 2026 00:00 UTC