Clinical trial NCT06807723: Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Official title: Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: WAC
DeSanto-Shinawi Syndrome
DESSH
WAC SYNDROME
OMIM#616708
ORPHA:466943
Keywords: Further delineation of the De Santo Shinawi Syndrome
Serie of patients with DESSH
Better characterization of DeSanto-Shinawi Syndrome
Series of individuals with pathogenic WAC variant
WAC
DeSanto
DeSanto-Shinawi
De Santo Shinawi
DESSH
OMIM 616708
OMIM#616708
ORPHA:466943
ORPHA 466943
Lead sponsor: University Hospital, Clermont-Ferrand
Sponsor class: OTHER
First posted: 2025-02-04
Enrollment: 50
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients of any age with a molecular and clinical diagnosis of DeSanto-Shinawi Syndrome.

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.

Detailed description: Main objective :

Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.

Secondary objectives:

* Inventory the clinical signs of the syndrome described to date and look for recurrence between patients.
* Select a set of standardized clinical and paraclinical examinations for diagnosis.
* Establish appropriate management and follow-up.
* To compare the phenotype of patients with DESSH due to a pathogenic point variation in the WAC gene and those with a microdeletion involving the WAC gene.

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)

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.

Primary outcomes:
measure: Clinical knowledge
timeFrame: Through study completion, an average of 2 years
measure: Clinical knowledge
timeFrame: Through study completion, an average of 2 years
measure: Clinical knowledge
timeFrame: Through study completion, an average of 2 years
measure: Paraclinical knowledge
timeFrame: Through study completion, an average of 2 years
measure: Paraclinical knowledge
timeFrame: Through study completion, an average of 2 years
Secondary outcomes:
measure: Recurrence of clinical signs
timeFrame: Through study completion, an average of 2 years
measure: Standardized examinations
timeFrame: Through study completion, an average of 2 years
measure: Management & Follow-up
timeFrame: Through study completion, an average of 2 years
measure: Genotype phenotype correlation
timeFrame: Through study completion, an average of 2 years
Other outcomes:
Locations:
city: Clermont-Ferrand,
country: France
facility: Clermont-Ferrand University Hospital
state: Auvergne
Study officials:
affiliation: University Hospital, Clermont-Ferrand
name: Florian CHERIK
role: PRINCIPAL_INVESTIGATOR
References: