NCT06807723 Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
| NCT ID | NCT06807723 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University Hospital, Clermont-Ferrand |
| Condition | WAC |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2024-11-07 |
| Primary Completion | 2027-11 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2024-11-07 with a primary completion date of 2027-11.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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.
Contact & Investigator
Florian CHERIK
PRINCIPAL INVESTIGATOR
University Hospital, Clermont-Ferrand
Frequently Asked Questions
Who can join the NCT06807723 clinical trial?
This trial is open to participants of all sexes, studying WAC. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06807723 currently recruiting?
Yes, NCT06807723 is actively recruiting participants. Contact the research team at promo_interne_drci@chu-clermontferrand.fr for enrollment information.
Where is the NCT06807723 trial being conducted?
This trial is being conducted at Clermont-Ferrand, France.
Who is sponsoring the NCT06807723 clinical trial?
NCT06807723 is sponsored by University Hospital, Clermont-Ferrand. The principal investigator is Florian CHERIK at University Hospital, Clermont-Ferrand. The trial plans to enroll 50 participants.