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RecruitingNot ApplicableNCT07075107

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

Sponsor

Assistance Publique Hopitaux De Marseille

Enrollment

62 participants

Start Date

Mar 9, 2026

Study Type

INTERVENTIONAL

Conditions

Rare Genetic Disease

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

Min Age: 0 YearsMax Age: 99 Years

Inclusion Criteria8

  • 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 Criteria4

  • 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

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Interventions

PROCEDUREBlood collection

Blood is collected in order to perform transcriptomic sequencing from blood

PROCEDUREskin biopsy

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

Locations(1)

Assistance publique - hôpitaux de Marseille

Marseille, Provence-Alpes-Côt-d'Azue, France

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NCT07075107