COL4A1/2 Natural History Registry

May 20, 2024

Research Study Type (Registry, Observational, Clinical Trial, Other): Registry/Observational

Research Status (In Development, Enrolling, Analysis): Enrolling

Site Type (Single Site, Multi-Site): Single Site

Variants in COL4A1/2 are increasingly recognized as a cause of perinatal hemorrhagic stroke as well as ischemic and hemorrhagic strokes in pediatric and young adult populations. This natural history study aims to better characterize how variants in COL4A1 and COL4A2 affect individuals across the lifespan, with a particular emphasis on cerebrovascular implications. This study is the precursor to future work on disease-modifying treatments.

PI name(s): Rachel Vassar, MD; Doug Gould, PhD

Keywords: Genetics, Perinatal stroke

Are you seeking other sites to participate in research study? Open to collaborating with clinicians at other sites

Contact information (if you wanted post in on the website): Rachel Vassar, MD at

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