Looking for RNA clues in blood and skin to find causes of rare genetic conditions
Official title: Transcriptomic Analysis (RNAseq) of Blood and Fibroblasts to Establish a Diagnosis in Patients With Rare Diseases
Run by Assistance Publique Hopitaux De Marseille · NCT07075107 · Data updated 2026-11-12
This will test whether RNA sequencing of blood and skin cells can find hidden genetic changes in people of any age with unexplained intellectual disability or neonatal hypotonia.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | 0 Years to 99 Years |
| Sex | All |
| Enrollment | 62 (estimated) |
| Sponsor | Assistance Publique Hopitaux De Marseille Academic / other |
| Locations | 1 site (Marseille, Provence-Alpes-Côt-d'Azue) |
| Status | Recruiting |
| Started | March 9, 2026 |
| Main results expected | April 30, 2029 |
| Study ends | April 30, 2029 |
| Registry record updated | May 8, 2026 |
| Trial ID | NCT07075107 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are people (age 0–99) with intellectual disability and/or neonatal hypotonia whose prior high-throughput DNA testing (gene panel, exome, or genome) did not find a cause and who can attend the Marseille center for blood draw and skin biopsy.
✕Probably not a fit
People who already have a confirmed genetic diagnosis explaining their symptoms, those unable or unwilling to provide a skin biopsy, pregnant or breastfeeding women, and people deprived of liberty are unlikely to benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Many patients with intellectual disability or neonatal hypotonia remain undiagnosed after standard DNA testing, and researchers hypothesize that some cases are caused by RNA-level defects. This study collects blood and skin biopsy samples (cultured fibroblasts) from undiagnosed patients and performs transcriptomic (RNAseq) analysis on both tissues. The number and type of deleterious RNA-level variants found in each tissue will be compared to determine which sample is more informative. Results aim to estimate how often RNA-level defects explain previously unexplained cases and to guide implementation of RNAseq in diagnostic practice.
Why it matters
Potential benefit: If successful, this approach could provide genetic diagnoses for patients who previously had no explanation for their condition, shortening the diagnostic odyssey and informing care.
How similar studies have gone: Previous research has shown that RNA sequencing can reveal splice or expression defects missed by DNA tests and can increase diagnostic yield in rare disease cohorts, so this approach has promising precedent.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Assistance publique - hôpitaux de Marseille
Marseille, Provence-Alpes-Côt-d'Azue, France Recruiting
Study contacts
- Study coordinator: Svetlana GOROKHOVA, MD
- Email: svetlana.gorokhova@ap-hm.fr
- Phone: 33491388499
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.