Clinical Trial: Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

U.S., Feb. 5 -- ClinicalTrials.gov registry received information related to the study (NCT06807723) titled 'Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene' on Nov. 14, 2024.

Brief Summary: The aim of this retrospective, multicenter study would be to extend the phenotypic spectrum of DeSanto Shinawi Syndrome and improve the knowledge of its evolution. To this end, the investigators would like to issue a call for international collaboration in order to create a series of new genetically diagnosed patients, not yet described in previous publications, and with a larger number of individuals evaluated in a single study. One of the aims would be to establ...