MedTrace Logo

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

NCT06807723 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-02-04

No results posted yet for this study

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.

Conditions

  • WAC
  • DeSanto-Shinawi Syndrome
  • DESSH
  • WAC SYNDROME
  • OMIM#616708
  • ORPHA:466943

Sponsors & Collaborators

  • University Hospital, Clermont-Ferrand

    lead OTHER

Principal Investigators

  • Florian CHERIK · University Hospital, Clermont-Ferrand

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-11-07
Primary Completion
2027-11-30
Completion
2027-11-30

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06807723 on ClinicalTrials.gov