This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
150 index patients (children or young adult) will be prospectively recruited over three years according to eligibility criteria. Relatives will be also recruited. Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.
Study Type
OBSERVATIONAL
Enrollment
132
genetic testing
Hôpital LARIBOISIERE Neurology Department
Paris, France
Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.
Time frame: at 36 months
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.
Time frame: at 36 months
To define any genotype-phenotype correlation in COL4A1 gene disease.
Time frame: at 36 months
Application of the results in daily clinical practice
Time frame: at 36 months
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