Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
Recruiting now · Not applicable
Conditions studied: Rare Genetic Disease
In brief
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.
Key facts
- Study ID
- NCT07075107
- Run by
- Assistance Publique Hopitaux De Marseille
- People needed
- 62
- Starts
- 2026-03-09
- Expected to finish
- 2029-04-30
- Last updated by the study team
- 2026-05-08
Who can join
Age: any, up to 99. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Male or female, aged 0-99 years
- Patient with neonatal intellectual disability and/or hypotonia followed at one of three inclusion centers
- Patient or parent has been informed about the study and has signed an informed consent form
- Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.
- If the patient's phenotype is suggestive of Prader-Willi syndrome or Angelman syndrome: a methylation anomaly test on chromosome 15 was negative.
- If the patient's phenotype is suggestive of fragile X syndrome: a repeat expansion analysis of the FMR1 gene was negative.
- If the patient's phenotype is suggestive of myotonic dystrophy type I, DM1: a repeat expansion analysis of the DMPK gene was negative.
- Patient entitled to or beneficiary of a social security scheme
You may not qualify if…
- Patient deprived of liberty
- Pregnant or breast-feeding woman,
- The person required to sign the consent form does not understand French
- Person under guardianship and/or curatorship
Where it is running
- Assistance publique - hôpitaux de Marseille — Marseille, Provence-Alpes-Côt-d'Azue, France (enrolling)
Full record on ClinicalTrials.gov
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