# Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes

> **NCT06111950** · NA · RECRUITING · sponsor: **Hospices Civils de Lyon** · enrollment: 45 (estimated)

## Conditions studied

- Taybi Linder Syndrome
- Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
- Roifman Syndrome
- Lowry Wood Syndrome

## Interventions

- **OTHER:** Blood samples
- **OTHER:** Skin biopsies
- **OTHER:** Fetal samples

## Key facts

- **NCT ID:** NCT06111950
- **Lead sponsor:** Hospices Civils de Lyon
- **Sponsor class:** OTHER
- **Phase:** NA
- **Study type:** INTERVENTIONAL
- **Status:** RECRUITING
- **Start date:** 2024-08-27
- **Primary completion:** 2029-08-27
- **Final completion:** 2029-08-27
- **Target enrollment:** 45 (ESTIMATED)
- **Last updated:** 2024-10-09


## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT06111950

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT06111950, "Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes". Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/clinical/NCT06111950. Licensed CC0.

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