Status:
RECRUITING
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
Lead Sponsor:
Hospices Civils de Lyon
Conditions:
Taybi Linder Syndrome
Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Eligibility:
All Genders
Phase:
NA
Brief Summary
In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns. The minor spliceosome comprises its ...
Eligibility Criteria
Inclusion
- 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
- Subject participating in another research including an exclusion period still in progress.
Key Trial Info
Start Date :
August 27 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
August 27 2029
Estimated Enrollment :
45 Patients enrolled
Trial Details
Trial ID
NCT06111950
Start Date
August 27 2024
End Date
August 27 2029
Last Update
October 9 2024
Active Locations (6)
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1
Centre de référence des anomalies du développement et syndromes malformatifs du Sud-Ouest Occitanie Réunion, CHU de Bordeaux-GH Pellegrin
Bordeaux, France, 33000
2
Centre de référence anomalies du développement de Lyon, Hôpital Femme Mère Enfant
Bron, France, 69500
3
Centre de référence des anomalies du développement et syndromes malformatifs de l'Est, CHU de DIJON
Dijon, France, 9000
4
Centre de référence des anomalies du développement et syndromes malformatifs de l'inter région Nord-Ouest, Hôpital J de Flandre
Lille, France, 59000