An interventional study of Re-analysis of available srGS data and Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs) in Intellectual Disability, Neurodevelopmental Disorder (Diagnosis) and srGS, sponsored by Centre Hospitalier Universitaire Dijon. Not yet recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-08-10.
Sponsored by Centre Hospitalier Universitaire Dijon · Not applicable, Interventional, and Diagnostic
Neurodevelopmental disorders (NDDs), including intellectual disability (ID), represent the most common indication for genetic testing. Affecting up to 3% of the general population, NDDs are characterized by significant clinical and genetic heterogeneity. Although short-read genome sequencing (srGS) has driven major advances through the France Genomic Medicine 2025 Plan (PFMG2025), a substantial proportion of patients still lack a molecular diagnosis.
These results are partly explained by the limitations of short-read genome sequencing (srGS). Although effective in many cases, this technology performs poorly in detecting complex structural rearrangements, anomalies within repetitive or GC-rich regions, epigenetic variations, and certain intronic variants. Furthermore, srGS does not allow for the direct assessment of the functional impact of genetic variations on splicing or gene expression. Following a negative srGS result, periodic reanalysis of sequencing data via the PFMG2025 laboratories (AURAGEN and SeqOIA) is the only diagnostic option currently available in routine practice. However, these reanalyses are constrained by financial and staffing limitations as well as strict eligibility criteria, making it difficult for many patients-particularly those with stable neurodevelopmental disorders (NDDs)-to obtain a diagnosis. Moreover, they often consist merely of a data review without bioinformatic updates, and the turnaround times-frequently exceeding one year-contribute to the diagnostic odyssey. Utilizing updated pipelines tailored to the specific characteristics of NDDs for the re-examination of srGS data could serve as an initial source of new diagnoses.
Complementary technologies-such as messenger RNA sequencing (mRNA-seq), optical genome mapping (OGM), and long-read genome sequencing (lrGS)-are available and offer solutions to overcome the limitations of short-read genome sequencing (srGS). In particular, they enable the identification of complex structural variants and the assessment of the functional impact of point variants. Despite their potential, their routine use remains limited due to cost and technical complexity.
Our study proposes a combined strategy to address the limitations of current approaches and improve the diagnosis of neurodevelopmental disorders (NDDs) that remain unresolved after short-read genome sequencing (srGS). It begins with a re-analysis of sequencing data using customized bioinformatics pipelines tailored to the patients' specific clinical profiles. In cases of inconclusive results, innovative multi-omics analyses (mRNA-seq, OGM, and long-read genome sequencing/lrGS) will be employed to investigate complex genetic variants. As multi-omics approaches are not currently integrated into the PFMG2025 framework, the project's findings will be crucial in demonstrating their added value for NDD diagnosis and could pave the way for their inclusion in a future PFMG. By anticipating these developments, NextOmix will help define the diagnostic strategies of the future, aligned with technological advancements and patient needs.
387 studies on the registry are indexed under Intellectual Disability; 105 are open to participants now.
This study's planned enrollment of 132 is above the median of 58 across 248 interventional studies indexed under Intellectual Disability.
Browse Intellectual Disability studies →Centre Hospitalier Universitaire Dijon is the lead sponsor of 499 studies on the registry; 103 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.
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Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
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.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Allogeneic and autologous transplant
Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Diagnostic Test: Re-analysis of available srGS data · Diagnostic Test: Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs) · Diagnostic Test: srGS sequencing · Diagnostic Test: Short-read sequencing (srGS) followed by long-read sequencing (lrGS,), mRNA-sequencing and GMO testing
Diagnostic Test: Re-analysis of available srGS data · Diagnostic Test: Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs) · Diagnostic Test: srGS sequencing · Diagnostic Test: Short-read sequencing (srGS) followed by long-read sequencing (lrGS,), mRNA-sequencing and GMO testing
Diagnostic Test: Re-analysis of available srGS data · Diagnostic Test: Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs) · Diagnostic Test: srGS sequencing · Diagnostic Test: Short-read sequencing (srGS) followed by long-read sequencing (lrGS,), mRNA-sequencing and GMO testing
Re-analysis of available srGS data without further analysis, as the results were positive for the causal diagnosis.
Re-analysis of available srGS data followed by additional analyses (lrGS sequencing, mRNA-seq, and GMO testing), as the srGS data are negative for the causal diagnosis.
New srGS sequencing without additional analyses, as it is positive for the causal diagnosis.
New srGS sequencing followed by additional analyses (lrGS sequencing, mRNA-seq, and GMO testing) because the srGS data are negative for the causal diagnosis.
Identification of a causative diagnosis (class 4 or 5 variant according to American College of Medical Genetics criteria) explaining the phenotype and validated during a multidisciplinary team meeting.
Identification of a causative diagnosis (class 4 or 5 variant according to American College of Medical Genetics criteria) explaining the phenotype and validated during a multidisciplinary team meeting.
Time frame: Between 4 and 12 months
This study is not yet recruiting, as verified in Aug 2026. You cannot join it, but the record below documents what was studied.
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