Understanding genetic syndromes linked to RNU4ATAC mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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 du Sud-Ouest Occitanie Réunion, CHU de Bordeaux-GH Pellegrin
  Bordeaux, France Not yet 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.