An observational study in WAC, DeSanto-Shinawi Syndrome and DESSH, sponsored by University Hospital, Clermont-Ferrand. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2025-02-04.
Sponsored by University Hospital, Clermont-Ferrand · Observational
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.
Main objective :
Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.
Secondary objectives:
Main inclusion criteria:
Children and adults of any age. Molecular diagnosis of a pathogenic variant involving the WAC gene (SNV, CNV, SV).
Main non-inclusion 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.
Primary endpoint:
The data collected will enable the investigators to meet the objective, namely to expand clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.
Main secondary endpoints: NA (descriptive study) Statistics: NA (descriptive study)
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's planned enrollment of 50 is below the median of 102 across 2,209 observational studies indexed under Syndrome.
Browse Syndrome studies →University Hospital, Clermont-Ferrand is the lead sponsor of 841 studies on the registry; 178 are open to participants now.
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Patients of any age with a molecular and clinical diagnosis of DeSanto-Shinawi Syndrome.
Exclusion Criteria:
Clinical knowledge
Morphologic description with photos (optional) at a specified date (front and side of the face, hands-feet : plant and palm) using HPO terms
Time frame: Through study completion, an average of 2 years
Clinical knowledge
Overall clinical examination and interrogatory at the last medical consultation (neurologic, cardiologic, gastroenterologic, pulmonary, urinary, global development, etc.) : data collected using a redcap form.
Time frame: Through study completion, an average of 2 years
Clinical knowledge
Height, weight and head circumferance at birth and at last visit
Time frame: Through study completion, an average of 2 years
Paraclinical knowledge
Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD
Time frame: Through study completion, an average of 2 years
Paraclinical knowledge
Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography
Time frame: Through study completion, an average of 2 years
Recurrence of clinical signs
Inventory the clinical signs of the syndrome described to date and mesure concordance or not
Time frame: Through study completion, an average of 2 years
Standardized examinations
Using concordance of signs, mesure the clinical and paraclinical necessary at diagnosis
Time frame: Through study completion, an average of 2 years
Management & Follow-up
Using concordance of signs at different ages, establish appropriate management and follow-up.
Time frame: Through study completion, an average of 2 years
Genotype phenotype correlation
Compare the phenotype of DESSH patients with pathogenic point variation in the WAC gene and those with microdeletion involving the WAC gene
Time frame: Through study completion, an average of 2 years
Plan to share: Yes — All IPD that underlie results in a publication.
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University Hospital, Clermont-Ferrand