Phytanoyl-CoA hydroxylase deficiency
MONDO:0100258Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
Also known as: PHYH deficiency, PHYH related disorder of peroxisomal alpha oxidation, phytanoyl-CoA hydroxylase deficiency
5 clinical trials for this condition and its sub-types, 0 tagged with Phytanoyl-CoA hydroxylase deficiency itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Phytanoyl-CoA hydroxylase deficiency
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Adult Refsum disease 4 trials
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Thousands join fight against blindness by sharing their stories
Knowledge-focused Recruiting nowThis registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …
Sponsor: Foundation Fighting Blindness • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Researchers track rare metabolic disorders to unlock secrets
Knowledge-focused Recruiting nowThis study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Massive leukodystrophy biobank aims to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC