Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

NCT07075107 · tracked via the Priya Life Science France tracker

Sponsor

Assistance Publique Hopitaux De Marseille

Phase

Not applicable

Started

2026-03-09

Last updated

2026-05-08

Condition(s) studied

Rare Genetic Disease

Investigational drug(s) / intervention(s)

Blood collectionskin biopsy

Blood collection: Blood is collected in order to perform transcriptomic sequencing from blood

skin biopsy: A biopsy of skin is performed in order to perform transcriptomic sequencing on fibroblasts obtained from the biopsy

Study 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

Sex

ALL

Min age

0 Years

Max age

99 Years

Healthy volunteers

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Primary outcome measure(s)

Patients with identified deleterious variant at RNA level — Through study completion, an average of 42 month.
The number of patients initially in diagnostic errancy in whom a deleterious variant at RNA level was identified by transcriptomic analysis (RNAseq).

Trial sites (1)

Facility	City	Region	Status
Assistance publique - hôpitaux de Marseille	Marseille	Provence-Alpes-Côt-d'Azue	Recruiting

More Assistance Publique Hopitaux De Marseille trials in France

Application of ihMT MRI in Multiple Sclerosis Recruiting

PREVenting-ENvIronment-Reprotoxic Exposures Before In Vitro Fertilization (PREVENIR-FIV) Starting soon

Safety and Efficacy of a STOPping Strategy Versus Classical Maintenance Dose of JAK Inhibitors in Deep Remission Patients With Ulcerative Colitis Starting soon

Assessment of Protein Intake Using 2 Types of Nutritional Collection in Chronic Kidney Disease. Recruiting

Clinical Evaluation of an IGRA Test for the Diagnosis of Active and Latent Tuberculosis Recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07075107 on ClinicalTrials.gov ↗ ← All trials in France