Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
Transcriptomic Analysis (RNAseq) of Blood and Fibroblasts to Establish a Diagnosis in Patients With Rare Diseases
Assistance Publique Hopitaux De Marseille
62 participants
Mar 9, 2026
INTERVENTIONAL
Conditions
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.
Eligibility
Plain Language Summary
Simplified for easier understanding
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Interventions
Blood is collected in order to perform transcriptomic sequencing from blood
A biopsy of skin is performed in order to perform transcriptomic sequencing on fibroblasts obtained from the biopsy
Locations(1)
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NCT07075107