Actively Recruiting
Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Led by University Hospital, Clermont-Ferrand · Updated on 2025-02-04
50
Participants Needed
1
Research Sites
155 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children and adults of any age.
- Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).
You will not qualify if you...
- Patients with a molecular diagnosis of another pathogenic variant (SNV) of a gene responsible for a neurodevelopmental disorder.
- Patients who have already participated in a DeSanto-Shinawi Syndrome study with published data.
- No patient data available.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Clermont-Ferrand University Hospital
Clermont-Ferrand, Auvergne, France, 63000
Actively Recruiting
Research Team
L
Lise LACLAUTRE
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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