RNA and genome sequencing in trio approach to find and prioritize gene variants in neurodevelopmental disorders with developmental abnormalities

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study uses a multi-omic approach by performing RNA sequencing and trio whole-genome sequencing to identify and prioritize genome variants that may cause neurodevelopmental disorders with malformations. It targets individuals from birth through adulthood who have developmental delays, intellectual disability, autism, or related features and for whom prior genetic testing was inconclusive. The design integrates RNA data to reveal aberrant gene expression and other transcriptomic signals that can guide variant prioritization. The study is centered at French university hospitals and involves collaboration among Angers, Brest, and Le Mans sites. Ethical consent and fibroblast RNA samples are required for research use.

Why it matters

Who can join: the full rules

Inclusion Criteria :

* children or adult without any age limit, with neurodevelopmental disorders defined by :
* between 0 and 5 years old with severe developmental delays regarding motor and/or language acquisitions, and/or social communication disorders,
* \> 6 years old with intellectual deficiency whatever the severity (with if available, neuropsychological evaluation), with potential associated manifestations such as epilepsy and/or autism, and/or behaviour troubles and/or attention deficit hyperactivity disorder ;
* with developmental anomalies and/or dimorphism ;
* without any evidence of clinical diagnosis
* negative chromosomal microarray and/or exome sequencing
* negative fragile X syndrome
* skin biopsy feasible or RNA sample extracted from fibroblast culture, available to be used in a research context inside the lab center
* consent obtained from the participant or, consent from legal representatives for a minor patient or a patient unable to consent
* participant affiliated to the french security regimen or equivalent

Exclusion Criteria:

* Neurodevelopmental disorders with developmental anomaly from non genetic causes or highly evident diagnosis for which a molecular test is available in routine practices and whose the cost is inferior than the cost of the genome and the RNA sequencing
* unwillingness to participate, from the patient or from the legal representatives
* Pregnant or lactating women

Where it's running

• University Hospital of Angers
  Angers, France Recruiting
• University Hospital of Brest
  Brest, France Recruiting
• Le Mans Hospital Center
  Le Mans, France Recruiting
• University Hospital of Rennes
  Rennes, France Recruiting
• University Hospital of Nantes
  Nantes, France Not yet recruiting
• University Hospital of Tours
  Tours, France Not yet recruiting

Study contacts

• Study coordinator: Estelle COLIN, MD, PhD
• Email: estelle.colin@chu-angers.fr
• Phone: 02 41 35 36 37

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.