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

NCT06807723 | Recruiting

• 1 other identifier: 2024-CF366
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (5)

• 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

  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.

  Through study completion, an average of 2 years

• Clinical knowledge

  Height, weight and head circumferance at birth and at last visit

  Through study completion, an average of 2 years

• Paraclinical knowledge

  Any psychometric scale performed during lifetime : Language delay, Motor delay, ADHD, IQ, ASD

  Through study completion, an average of 2 years

• Paraclinical knowledge

  Any exams performed during lifetime : EEG, neuroMRI, abdominal echography, cardiac echography

  Through study completion, an average of 2 years

Secondary Outcomes (4)

• Recurrence of clinical signs

  Through study completion, an average of 2 years

• Standardized examinations

  Through study completion, an average of 2 years

• Management & Follow-up

  Through study completion, an average of 2 years

• Genotype phenotype correlation

  Through study completion, an average of 2 years

Study Arms (1)

Serie of patients with a molecular diagnosis of DeSanto-Shinawi Syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients of any age with a molecular and clinical diagnosis of DeSanto-Shinawi Syndrome.

You may qualify if:

• Children and adults of any age.
• Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Clermont-Ferrand: lead

Study Sites (1)

Clermont-Ferrand University Hospital

Clermont-Ferrand, Auvergne, 63000, France

RECRUITING

Related Links

• Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy; Pasquali et al.

Study Officials

• Florian CHERIK

  University Hospital, Clermont-Ferrand

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lise LACLAUTRE

CONTACT

334.73.754.963; promo_interne_drci@chu-clermontferrand.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2024
• First Posted: February 4, 2025
• Study Start: November 7, 2024
• Primary Completion (Estimated): November 1, 2027
• Study Completion (Estimated): November 1, 2027
• Last Updated: February 4, 2025

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)