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Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

RecruitingNAAges 0 Years - 99 YearsAllAssistance Publique Hopitaux De Marseille
NCT07075107 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Blood collection
  • skin biopsy
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Where

1 site
Assistance publique - hôpitaux de Marseille
Marseille, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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