U.S., Feb. 28 -- ClinicalTrials.gov registry received information related to the study (NCT06850519) titled 'Genetic Risk Factors of the Sneddon Syndrome' on Sept. 08, 2021.
Brief Summary: Sneddon syndrome (SS) is a rare disorder with an incidence of about 4/million/year that affects mainly young and predominantly female adults. It is characterized by recurrent strokes and livedo reticularis, a purple reticular patterning of the skin. A genetic predisposition to this disease, for which there is still no single therapy, is being discussed. Our group recently identified a homozygous nonsense mutation within epidermal growth factor repeat (EGFr) 19 of NOTCH3 in two siblings of a consanguineous family with Sneddon syndrome and pediatric stroke...