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

Recruiting now

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

In brief

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.

Key facts

Study ID

NCT06807723

Run by

University Hospital, Clermont-Ferrand

People needed

50

Starts

2024-11-07

Expected to finish

2027-11-01

Last updated by the study team

2025-02-04

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• 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.

Where it is running

• Clermont-Ferrand University Hospital — Clermont-Ferrand, Auvergne, France (enrolling)

Full record on ClinicalTrials.gov

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