Zellweger spectrum disorders
MONDO:0019609The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Also known as: ZS, ZWS, Zellweger spectrum disorders, Zellweger syndrome, cerebrohepatorenal syndrome, Zellweger leukodystrophy
14 clinical trials for this condition and its sub-types, 6 tagged with Zellweger spectrum disorders itself.
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Browse by category →Sub-types of Zellweger spectrum disorders
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Peroxisome biogenesis disorder due to PEX1 defect 0 trials · 1 incl. sub-types
2 sub-types
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Peroxisome biogenesis disorder 9B 0 trials
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- Peroxisome biogenesis disorder 14B 0 trials
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3 sub-types
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New study tracks eye disease in rare genetic disorder
Knowledge-focused Recruiting nowThis study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:12 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