Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes

Launched by HOSPICES CIVILS DE LYON · Oct 26, 2023

Keywords

ClinConnect Summary

This clinical trial is studying certain rare genetic disorders known as Taybi Linder Syndrome, Roifman Syndrome, Lowry Wood Syndrome, and others. These conditions can cause growth delays, intellectual disabilities, and other serious health issues. The researchers want to understand how mutations in specific genes (RNU4ATAC and RTTN) affect the body, particularly focusing on how these mutations might disrupt the normal function of cells. By gathering blood and tissue samples from patients with these syndromes, as well as from their parents, the researchers hope to learn more about the underlying causes of these disorders.

To participate in this study, individuals must have been diagnosed with one of the syndromes mentioned and carry specific mutations in the RNU4ATAC or RTTN genes. They can be of any age and gender. Parents of affected individuals who are healthy can also participate. For those expecting a baby with these mutations, the study includes options for collecting tissue samples if there is a miscarriage or a medical abortion. Participants can expect to provide samples that will help scientists better understand these genetic conditions and potentially lead to better treatments in the future. It’s important to note that all participants must give their consent and be part of a health insurance plan.

Gender

ALL

Eligibility 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.