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

Recruiting

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

• Registration Number: NCT06807723
• Lead Sponsor: University Hospital, Clermont-Ferrand

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 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.

Detailed 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)

Study Timeline

• Status Verified: 2024-11
• Study Start: 2024-11-07
• Study First Submitted: 2024-11-14
• Study First Submitted QC: 2025-01-29
• Last Update Submitted: 2025-01-29
• Study First Posted: 2025-02-04
• Last Update Posted: 2025-02-04
• Primary Completion: 2027-11
• Study Completion: 2027-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Clinical knowledge	Through study completion, an average of 2 years	Height, weight and head circumferance at birth and at last visit
Paraclinical knowledge	Through study completion, an average of 2 years	Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography

Secondary Outcome Measures

Name	Time	Method
Recurrence of clinical signs	Through study completion, an average of 2 years	Inventory the clinical signs of the syndrome described to date and mesure concordance or not
Standardized examinations	Through study completion, an average of 2 years	Using concordance of signs, mesure the clinical and paraclinical necessary at diagnosis
Management & Follow-up	Through study completion, an average of 2 years	Using concordance of signs at different ages, establish appropriate management and follow-up.
Genotype phenotype correlation	Through study completion, an average of 2 years	Compare the phenotype of DESSH patients with pathogenic point variation in the WAC gene and those with microdeletion involving the WAC gene

Trial Locations

Locations (1)

Clermont-Ferrand University Hospital; 🇫🇷 Clermont-Ferrand,, Auvergne, France