Characterizing De Santo Shinawi Syndrome in patients with WAC gene variants
Official title: Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Run by University Hospital, Clermont-Ferrand · NCT06807723 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | University Hospital, Clermont-Ferrand Academic / other |
| Locations | 1 site (Clermont-Ferrand, Auvergne) |
| Status | Recruiting |
| Started | November 7, 2024 |
| Main results expected | November 2027 |
| Study ends | November 2027 |
| Registry record updated | February 4, 2025 |
| Trial ID | NCT06807723 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include children and adults with a confirmed pathogenic variant in the WAC gene.
✕Probably not a fit
Patients with a molecular diagnosis of another variant responsible for a neurodevelopmental disorder may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
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Clermont-Ferrand University Hospital
Clermont-Ferrand, Auvergne, France Recruiting
Study contacts
- Principal investigator: Florian CHERIK — University Hospital, Clermont-Ferrand
- Study coordinator: Lise LACLAUTRE
- Email: promo_interne_drci@chu-clermontferrand.fr
- Phone: 334.73.754.963
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.