An interventional study of RNA sequencing and whole genome sequencing in a trio way in Neurodevelopmental Disorders and Developmental Abnormalities, sponsored by University Hospital, Angers. Recruiting at 7 sites in France. Per ClinicalTrials.gov, last updated 2026-06-29.
Sponsored by University Hospital, Angers · Not applicable, Interventional, and Diagnostic
Three million persons in France are impacted by rare diseases. Amid the 7000 different diseases which are identified today, neurodevelopmental disorders are the main symptoms found interesting 35 000 birth every years, according to the French Health Authority. In half of these cases, patients are under 5 years old and a molecular diagnosis is only available in 50% of them, associated with a diagnostic wandering exceeding 5 years for 25% of every patients.
High throughput DNA sequencing technologies are powerful tools to elucidate new causative variants. Although the diagnostic yield was refined by DNA-seq, data interpretation and technology limits remain the two major obstacles which still need be overcame. Missing a molecular diagnosis through a genomic approach alone highlight the need to integrate multi-omic approaches such as Ribonucleic Acid sequencing. This sequencing level allows new insight such like the evidence of aberrant gene expression, mono allelic allele expression, or abnormal alternative splicing. It makes possible too, to detect variants which are unable to be found via genome sequencing only.
Recently, a diagnostic performance improvement has been described trough the association of the two technics, i.e. Ribonucleic Acid-seq and genome sequencing, in a context of neuromuscular diseases. However, only few studies were carry out on neurodevelopmental disorders in addition with malformative features. Angers's team demonstrated by the end of 2022, a diagnostic results enhancement by carrying genome sequencing plus Ribonucleic Acid-seq at the same time on patient with previously exome negative analysis. Moreover in 2023, Dekker et al. work shed light on a diagnostic yield improvement via the same analytic schema.
In face of those first observations, the ATOMICS study aims to evaluate the diagnostic contribution of Ribonucleic Acid-seq paired with genome sequencing in a trio way versus the genome sequencing in a solo way, to identify the find a final diagnosis for patient presenting neurodevelopmental disorders with developmental abnormalities and without an evident diagnosis after chromosome microarray and/or exome sequencing analysis.
To successfully carry out the ATOMICS study, investigators plan to recruit patient in a protocol considered with minimal risk and minimal constraints, to compare Ribonucleic Acid-seq performed on fibroblasts, in addition to genome sequencing in a solo or a trio manner, to trio genome sequencing alone, with the final objective in mind to obtain an etiology diagnostic for a patient presenting with neurodevelopmental disorders and development abnormalities.
352 studies on the registry are indexed under Neurodevelopmental Disorders; 141 are open to participants now.
This study's planned enrollment of 58 is below the median of 88 across 217 interventional studies indexed under Neurodevelopmental Disorders.
Browse Neurodevelopmental Disorders studies →University Hospital, Angers is the lead sponsor of 478 studies on the registry; 120 are open to participants now.
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A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Each index case will be analysed through RNA sequencing and trio whole genome sequencing. The biologists in charge of data interpretation in this arm will have access to every data.
Diagnostic Test: RNA sequencing and whole genome sequencing in a trio way
Each index case will be analysed through RNA sequencing and trio whole genome sequencing. In this arm however, the biologists in charge of data interpretation will be blinded from RNA sequencing results
Diagnostic Test: RNA sequencing and whole genome sequencing in a trio way
Patient is not required to be blinded
Compare the interest of RNA sequencing in addition to a genome sequencing in trio, versus a genome sequencing trio analyse carried out alone, to identify the etiologic diagnosis of patient with neurodevelopmental disorders and developmental abnormalities
To compare the interest of RNA sequencing, carried out into fibroblasts in addition to a genome sequencing in trio, versus a genome sequencing-trio analyse carried out alone, to identify the etiologic diagnosis of patient with neurodevelopmental disorders and developmental abnormalities, without any obvious clinical diagnosis a priori, and without no identified result after Chromosomal Microarray and/or solo or trio exome sequencing Number of class 4 or class 5 (according the American College of Medical Genetics classification) variants newly identified and allowing a diagnosis to explain patient' symptoms, following RNA sequencing + genome sequencing-trio, vs genome sequencing trio alone.
Time frame: 12 months
Plan to share: Undecided
No publications or documents are linked to this record.
Started Nov 2025 (actual). Primary completion is estimated for May 2028, 30 months after the start.
Of 142 non-industry interventional studies with no phase under Neurodevelopmental Disorders, half reached primary completion within 30 months of starting (the median), counting those still running; a quarter within 15 and three quarters within 52. This study's planned 30 months is close to that.
Counting every sponsor, half of 148 studies reached it within 30 months; a quarter within 15 and three quarters within 52.
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Neurodevelopmental Disorders →