COL4A1/A2-related disorder
MONDO:1010150A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene.
Also known as: COL4A1/A2 syndrome, Gould syndrome
5 clinical trials for this condition and its sub-types.
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Broader categories
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Rare stroke causes no longer overlooked: new italian network aims to diagnose and understand mysterious brain diseases
Knowledge-focused Recruiting nowThis study is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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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…
Phase: NA • 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