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