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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-11-07

Study Completion Date

2027-11-30

Brief Summary

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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.

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Detailed Description

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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)

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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

No interventions assigned to this group

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No