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

Launched by UNIVERSITY HOSPITAL, CLERMONT-FERRAND · Jan 29, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on understanding DeSanto Shinawi Syndrome, a condition caused by changes in the WAC gene. The researchers aim to learn more about how this syndrome affects individuals over time and to gather information from more patients than has been done in past studies. By working together internationally, they hope to create a better understanding of the syndrome and develop a set of common tests for diagnosis and ongoing care. This will help patients, their families, and healthcare providers manage the condition more effectively.

Anyone can participate in this study, from children to adults, as long as they have a confirmed diagnosis of a change in the WAC gene that is linked to this syndrome. However, people who have been part of previous studies on DeSanto Shinawi Syndrome or have other neurodevelopmental disorders will not be included. Participants can expect to undergo specific clinical tests to help establish their health status and monitor their condition over time, contributing valuable information to improve care for others with the same diagnosis.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Children and adults of any age.
• • Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).
• Exclusion Criteria:
• • Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.
• • Patient having already participated in a DESSH study with published data.
• • No patient data available.