Characterizing De Santo Shinawi Syndrome in patients with WAC gene variants

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

This study is trying to learn more about De Santo Shinawi Syndrome by collecting information from people with changes in the WAC gene to help improve diagnosis and care for those affected.

Quick facts

• Study type: Observational
• Enrollment: 50 (estimated)
• Sex: All
• Sponsor: University Hospital, Clermont-Ferrand (other)
• Locations: 1 site (Clermont-Ferrand, Auvergne)
• Trial ID: NCT06807723 on ClinicalTrials.gov

What this trial studies

This observational study aims to expand the understanding of De Santo Shinawi Syndrome by collecting data from individuals with pathogenic variants of the WAC gene. It seeks to create a comprehensive series of genetically diagnosed patients to better characterize the syndrome's phenotypic spectrum. The study will involve standardized clinical and paraclinical examinations to improve diagnosis and management of affected patients. By collaborating internationally, the researchers hope to gather a larger dataset than previously available, enhancing knowledge of the syndrome's evolution.

Who should consider this trial

Good fit: Ideal candidates include children and adults with a confirmed pathogenic variant in the WAC gene.

Not a fit: Patients with a molecular diagnosis of another variant responsible for a neurodevelopmental disorder may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with De Santo Shinawi Syndrome.

How similar studies have performed: While there may be limited studies specifically on De Santo Shinawi Syndrome, similar approaches in characterizing genetic syndromes have shown promise in enhancing understanding and management.

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.

Where this trial is running

Clermont-Ferrand, Auvergne

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

Study contacts

• Principal investigator: Florian CHERIK — University Hospital, Clermont-Ferrand
• Study coordinator: Lise LACLAUTRE

Conditions: WAC, DeSanto-Shinawi Syndrome, DESSH, WAC SYNDROME, OMIM#616708, ORPHA:466943, Further delineation of the De Santo Shinawi Syndrome, Serie of patients with DESSH