Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene (2024-CF366)

University Hospital, Clermont-Ferrand

Status: Enrolling

Conditions: WAC; OMIM#616708; DESSH; DeSanto-Shinawi Syndrome; ORPHA:466943; WAC SYNDROME

Study type: Observational

Funder types: Other

Identifiers

NCT06807723

2024-CF366

Details and patient eligibility

About

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 establish a set of standardized clinical and paraclinical examinations to be carried out at diagnosis and for follow-up of affected patients. This would enable patients, their families and the caregivers involved to better anticipate future management.

Full description

Main objective :

Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.

Secondary objectives:

• Inventory the clinical signs of the syndrome described to date and look for recurrence between patients.
• Select a set of standardized clinical and paraclinical examinations for diagnosis.
• Establish appropriate management and follow-up.
• To compare the phenotype of patients with DESSH due to a pathogenic point variation in the WAC gene and those with a microdeletion involving the WAC gene.

Main inclusion criteria:

Children and adults of any age. Molecular diagnosis of a pathogenic variant involving the WAC gene (SNV, CNV, SV).

Main non-inclusion 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.

Primary endpoint:

The data collected will enable the investigators to meet the objective, namely to expand clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.

Main secondary endpoints: NA (descriptive study) Statistics: NA (descriptive study)

Enrollment: 50 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

50 participants in 1 patient group

Serie of patients with a molecular diagnosis of DeSanto-Shinawi Syndrome