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

> **NCT06807723** · — · RECRUITING · sponsor: **University Hospital, Clermont-Ferrand** · enrollment: 50 (estimated)

## Conditions studied

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

## Interventions

_None listed._

## Key facts

- **NCT ID:** NCT06807723
- **Lead sponsor:** University Hospital, Clermont-Ferrand
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2024-11-07
- **Primary completion:** 2027-11
- **Final completion:** 2027-11
- **Target enrollment:** 50 (ESTIMATED)
- **Last updated:** 2025-02-04


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT06807723

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT06807723, "Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene". Retrieved via AI Analytics 2026-06-04 from https://api.ai-analytics.org/clinical/NCT06807723. Licensed CC0.

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