Understanding genetic syndromes linked to RNU4ATAC mutations
Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome
This study is trying to understand how changes in the RNU4ATAC gene affect rare genetic syndromes like Taybi Linder Syndrome and Roifman Syndrome, which can cause growth and developmental problems.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 45 (estimated) |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 6 sites (Bordeaux and 5 other locations) |
| Trial ID | NCT06111950 on ClinicalTrials.gov |
What this trial studies
This study investigates the pathophysiology of rare genetic syndromes associated with mutations in the RNU4ATAC gene, which is involved in the minor spliceosome. It focuses on conditions such as Taybi Linder Syndrome, Roifman Syndrome, and Lowry Wood Syndrome, which are characterized by growth retardation, microcephaly, and other developmental issues. The research involves collecting blood samples, skin biopsies, and fetal samples to explore the impact of minor splicing defects on U12 genes that are crucial for primary cilia function. The goal is to better understand the cellular mechanisms affected by these mutations.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Taybi Linder Syndrome, Roifman Syndrome, Lowry Wood Syndrome, or other related conditions with specific RNU4ATAC mutations.
Not a fit: Patients without bi-allelic mutations of RNU4ATAC or RTTN, or those not diagnosed with the specified syndromes, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential treatments for patients with these rare genetic syndromes.
How similar studies have performed: While this approach is novel in its specific focus on RNU4ATAC mutations, similar studies on genetic syndromes have shown promise in understanding underlying mechanisms.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: TALS, RFMN, LWS or other pathology patients * Woman or man * All ages * Presence of bi-allelic mutations of RNU4ATAC or RTTN * Written consent of parents or legal guardian(s) * Affiliation to a Social Security scheme Healthy participants (Parent of the patient) * Woman or man * Major * Presence of mono-allelic mutations of RNU4ATAC * Written consent of the participant * Affiliation to a Social Security scheme Parents having recourse to a medical termination of pregnancy or having had a spontaneous miscarriage (for fetus samples) * Woman or man * Major * Presence of bi-allelic mutations of RNU4ATAC or RTTN in the fetus * Written parental consent * Affiliation to a Social Security scheme Exclusion Criteria: Subject participating in another research including an exclusion period still in progress.
Where this trial is running
Bordeaux and 5 other locations
- Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Bordeaux-GH Pellegrin — Bordeaux, France (Not_yet_recruiting)
- Centre de référence anomalies du développement de Lyon, Hôpital Femme Mère Enfant — Bron, France (Recruiting)
- Centre de référence des anomalies du développement et syndromes malformatifs de l'Est, CHU de DIJON — Dijon, France (Not_yet_recruiting)
- Centre de référence des anomalies du développement et syndromes malformatifs de l'inter région Nord-Ouest, Hôpital J de Flandre — Lille, France (Not_yet_recruiting)
- Unité Fonctionelle d'embryo-fœtopathologie, Hôpital Necker-Enfants Malades — Paris, France (Not_yet_recruiting)
- Centre de référence des anomalies du développement et syndromes malformatifs de l'Ouest, Hôpital Sud — Rennes, France (Not_yet_recruiting)
Study contacts
- Study coordinator: Sylvie MAZOYER, Dr
- Email: sylvie.mazoyer@inserm.fr
- Phone: 04 81 10 65 33
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.