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Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

Study acronym: ARNseqFibroSan
StatusRecruiting
PhaseNot applicable
Started
View on ClinicalTrials.gov ↗

Record History

  1. Trial status: Not Yet Recruiting to Recruiting Start date changed from estimate of Dec 15, 2025 to Mar 9, 2026 · Site details revisedv3 Show 2 more changesShow less
    • Start date changed from estimate of Dec 15, 2025 to Mar 9, 2026
    • Site details revised
  2. Start date: Sep 1, 2025 to Dec 15, 2025 Primary and study completion dates: Mar 1, 2029 to Apr 30, 2029 · Secondary endpoints: details revised at 1 of 1 entryv2 Show 2 more changesShow less
    • Primary and study completion dates: Mar 1, 2029 to Apr 30, 2029
    • Secondary endpoints: details revised at 1 of 1 entry
  3. Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT07075107
Lead Sponsor Assistance Publique Hopitaux De Marseille
Conditions Rare Genetic Disease
Enrollment 62 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov