COL4A1-related disorder
MONDO:0800461The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia).
Also known as: COL4A1-related disorders
4 clinical trials for this condition and its sub-types, 1 tagged with COL4A1-related disorder itself.
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Sub-types of COL4A1-related disorder
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Familial schizencephaly 0 trials
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Retinal arterial tortuosity 0 trials
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Rare gene mutations under the microscope: new study seeks clues in families
Knowledge-focused Recruiting nowThis study looks at people with rare changes in the COL4A1 or COL4A2 genes, which can cause bleeding in the brain and problems in other organs. Researchers will collect health information and blood samples from 120 people, including family members with and without the gene change…
Sponsor: Meyer Children's Hospital IRCCS • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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500 patients join hunt for genetic clues in brain vessel disease
Knowledge-focused Recruiting nowThis study is following 500 people with cerebral small vessel disease (CSVD) to see how their genes affect their brain scans, symptoms, and health over time. Participants get genetic testing and MRI scans at the start and again after 1-2 years. The goal is to better understand th…
Sponsor: National Taiwan University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC