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Recruiting NCT06807723

Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

— Observational WAC DeSanto-Shinawi Syndrome DESSH WAC SYNDROME

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: WAC, DeSanto-Shinawi Syndrome, DESSH, WAC SYNDROME. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Overview

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)

Primary outcome measures

  • Clinical knowledge [Time frame: Through study completion, an average of 2 years]
  • Clinical knowledge [Time frame: Through study completion, an average of 2 years]
  • Clinical knowledge [Time frame: Through study completion, an average of 2 years]
  • Paraclinical knowledge [Time frame: Through study completion, an average of 2 years]
  • Paraclinical knowledge [Time frame: Through study completion, an average of 2 years]
Secondary outcome measures (4)
  • Recurrence of clinical signs [Time frame: Through study completion, an average of 2 years]
  • Standardized examinations [Time frame: Through study completion, an average of 2 years]
  • Management & Follow-up [Time frame: Through study completion, an average of 2 years]
  • Genotype phenotype correlation [Time frame: Through study completion, an average of 2 years]

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 1 center
  • Clermont-Ferrand University Hospital — Clermont-Ferrand

Identifiers

NCT: NCT06807723 · 2024-CF366

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗