Recruiting
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
About this study
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.
Drug
- Blood collection
- skin biopsy
Study locations
France
Provence-Alpes-Côt-d'Azue
Marseille (1)
- Assistance publique - hôpitaux de Marseille — Recruiting
Contact information
- Svetlana GOROKHOVA, MD
33491388499
svetlana.gorokhova@ap-hm.fr
Full registry eligibility criteria
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
Important information
Registry information may change. FAST context and classifications are editorial additions. Inclusion does not confirm eligibility or availability at a specific site. Review the official record and contact the study team for participation requirements.