Actively Recruiting
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
Led by Assistance Publique Hopitaux De Marseille · Updated on 2026-05-08
62
Participants Needed
1
Research Sites
164 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged 0 to 99 years
- Patient has neonatal intellectual disability and/or hypotonia and is followed at one of three inclusion centers
- Patient or parent has been informed about the study and signed an informed consent form
- Genetic testing by high-throughput DNA sequencing did not find abnormalities explaining the patient's symptoms
- Negative methylation test for chromosome 15 if Prader-Willi or Angelman syndrome is suspected
- Negative repeat expansion test of the FMR1 gene if fragile X syndrome is suspected
- Negative repeat expansion test of the DMPK gene if myotonic dystrophy type I is suspected
- Patient has social security coverage or is beneficiary of a social security scheme
You will not qualify if you...
- Patient is deprived of liberty
- Pregnant or breastfeeding woman
- Person required to sign consent does not understand French
- Person under guardianship or curatorship
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Assistance publique - hôpitaux de Marseille
Marseille, Provence-Alpes-Côt-d'Azue, France, 13354
Actively Recruiting
Research Team
S
Svetlana GOROKHOVA, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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