Neurodevelopmental Disorders and Developmental AbnormalitiesATOMICSNCT06762678
Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation
A study testing RNA sequencing and whole genome sequencing in a trio way in people with Neurodevelopmental Disorders and Developmental Abnormalities, run by University Hospital, Angers at 7 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurodevelopmental Disorders and Developmental Abnormalities
- What is being tested?
- RNA sequencing and whole genome sequencing in a trio way
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 58 participants
- Where
- 7 sitesFrance
- Study dates
- 4 Nov 2025to 4 May 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Show all 10Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
France7 sites, 7 recruiting
- Recruiting
University Hospital of Angers
Angers
Estelle Colin
- Recruiting
University Hospital of Brest
Brest
Séverine AUDEBERT-BELLANGER
- Recruiting
Le Mans Hospital Center
Le Mans
Radka STOEVA
- Not yet recruiting
University Hospital of Nantes
Nantes
Bertrand ISIDOR
- Recruiting
University Hospital of Rennes
Rennes
Sylvie ODENT
- Not yet recruiting
University Hospital of Tours
Tours
- Not yet recruiting
Vannes Hospital Center
Vannes
Florence DEMURGER
About this study
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.
Read more
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.
- Being tested
- RNA sequencing and whole genome sequencing in a trio way
- Medical subject headings
- Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RNA sequencing and whole genome sequencing in a trio wayDiagnostic test
Patient is not required to be blinded
| Study group | Role | What they receive |
|---|---|---|
| RNA sequencing and trio whole genome sequencing | Other | 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. Receives: Diagnostic Test: RNA sequencing and whole genome sequencing in a trio way |
| Genome sequencing trio only | Other | 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 Receives: Diagnostic Test: RNA sequencing and whole genome sequencing in a trio way |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jan 2025
- Study start4 Nov 2025
- Primary completion4 May 2028 (estimated)
- Study completion4 May 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodevelopmental Disorders and Developmental AbnormalitiesStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 58 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06762678
- Sponsor's protocol ID
- 49RC23_0426
- Other IDs
- 2024-A01997-40
- Acronym
- ATOMICS
- Status last verified
- Jun 2026
- First submitted
- 31 Dec 2024
- Last updated
- 29 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 29 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation
- ClinicalTrials.gov ID
- NCT06762678
- Acronym / sponsor ID
- ATOMICS / 49RC23_0426
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 58 participants (estimated)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- 4 Nov 2025 (actual)
- Primary completion
- 4 May 2028 (estimated)
- Study completion
- 4 May 2028 (estimated)
- First posted
- 7 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| RNA sequencing and trio whole genome sequencing | Other | Diagnostic Test: RNA sequencing and whole genome sequencing in a trio wayEach 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. |
| Genome sequencing trio only | Other | Diagnostic Test: RNA sequencing and whole genome sequencing in a trio wayEach 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (10 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RNA sequencing and whole genome sequencing in a trio wayPatient is not required to be blinded | Diagnostic test | Genome sequencing trio only, RNA sequencing and trio whole genome sequencing |
Primary outcome
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
Time frame: 12 months
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jun 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing RNA sequencing and whole genome sequencing in a trio way in people with Neurodevelopmental Disorders and Developmental Abnormalities, run by University Hospital, Angers at 7 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Estelle COLIN, MD, PhD (02 41 35 36 37, estelle.colin@chu-angers.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Jun 2026.