Clinical Trial

Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

Study acronym: ARNseqFibroSan
Recruiting
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Summary
This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients. Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.
Protocol Amendment History 2 amendments
This ClinicalTrials.gov record has been amended 2 times since 2025-07-10; most recent amendment 2026-05-04.
Status change: Not Yet Recruiting → Recruiting 2026-05-04
Trial Details
NCT Number NCT07075107
Lead Sponsor Assistance Publique Hopitaux De Marseille
Conditions Rare Genetic Disease
Enrollment 62 participants
Start Date 2026-03-09
Primary Completion 2029-04-30 (estimated)
Study Completion 2029-04-30 (estimated)
Updated on ClinicalTrials.gov 2026-05-08