Neurogenetic DiseasesOMID-NEURONCT06955624
Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
A study testing RNA and/or DNA methylation and/or protein analysis in people with Neurogenetic Diseases, run by University Hospital, Rouen at 1 site in France.
Trial summary
Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Neurogenetic Diseases
- What is being tested?
- RNA and/or DNA methylation and/or protein analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 95 participants
- Where
- 1 siteFrance
- Study dates
- 15 Jan 2025to 15 Jan 2031
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- For this project, the inclusion of 3 participant profiles is required:
- 1a. Patient, major or minor, with a neurological disease affecting the central nervous system, who has already benefited from a genomic analysis (panel, exome or genome sequencing) as part of routine care, with inconclusive analysis because the result was either a variation of uncertain significance or the absence of a variant of interest (patients with inconclusive genomic results).
- 1b. Patient with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls).
- A relative of a type 1a. or 1b. patient with no symptoms of the disease, after the expected age of onset of symptoms in the patient's own family (healthy relatives).
- For all 3 groups:
- Affiliation with a social security scheme
- Agreement to take part in the study with signature of a specific informed consent form for the study.
Who cannot join
- For patients with inconclusive results: Patient with a neurological disease not suspected of a monogenic or oligogenic cause
- For healthy relatives: existence of a neurological disease (other than uncomplicated migraine) or psychiatric disease (other than simple anxiety stable under treatment).
- -
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Rouen University Hospital
Rouen
Gaël NICOLAS, 0033232888747, gael.nicolas@chu-rouen.fr
About this study
Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors. However, even after the sequencing of the appropriate genes, a large proportion of patients remains undiagnosed, either because there is no candidate mutation observed, or in case of identification of a candidate mutation with insufficient knowledge to consider it as pathogenic or not.
The aim of this project is to identify the cause of neurogenetic diseases in patients in situations of diagnostic wandering or dead ends by proposing the analysis of RNA and/or proteins from different tissues.
- Conditions
- Neurogenetic Diseases
- Being tested
- RNA and/or DNA methylation and/or protein analysis
- Keywords
- Neurogenetic diseases, Central nervous system disease
- Medical subject headings
- Central Nervous System Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RNA and/or DNA methylation and/or protein analysisGenetic
RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells
| Study group | Role | What they receive |
|---|---|---|
| Controls | Other | * Patients with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls
* Unaffected relatives, showing no symptoms of the disease after the expected age of onset of symptoms in the family Receives: Genetic: RNA and/or DNA methylation and/or protein analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
number and proportion of patients
number and proportion of patients in the "Patients with inconclusive results" group for whom a final diagnosis can be made at the end of this research.
Measured: through study completion, an average of 5 years
Secondary outcomes (2)
Inclusion
Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures)
Measured: through study completion, an average of 5 years
Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
Measured: through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 May 2025
- Study start15 Jan 2025
- Primary completion15 Jan 2030 (estimated)
- Study completion15 Jan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurogenetic DiseasesStudies of the same condition, open and under way.
- More trials run by University Hospital, RouenThe 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
- Not applicable
- Intervention model
- Single group
- Model description
- Qualification: Category 2 Product or procedure: excluding health products (products not mentioned in Article L.5311-11 of the Public Health Code)
- Masking
- None (open label)
- Enrolment
- 95 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital, Lille, Groupe Hospitalier Pitie-Salpetriere
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06955624
- Sponsor's protocol ID
- 2024/0190/HP
- Other IDs
- 2024-A01559-38
- Acronym
- OMID-NEURO
- Status last verified
- Apr 2025
- First submitted
- 15 Apr 2025
- Last updated
- 2 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
- ClinicalTrials.gov ID
- NCT06955624
- Acronym / sponsor ID
- OMID-NEURO / 2024/0190/HP
- Conditions
- Neurogenetic Diseases
- Keywords
- Neurogenetic diseases, Central nervous system disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 95 participants (estimated)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Collaborators
- University Hospital, Lille, Groupe Hospitalier Pitie-Salpetriere
- Study start
- 15 Jan 2025 (actual)
- Primary completion
- 15 Jan 2030 (estimated)
- Study completion
- 15 Jan 2031 (estimated)
- First posted
- 2 May 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.
Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors. However, even after the sequencing of the appropriate genes, a large proportion of patients remains undiagnosed, either because there is no candidate mutation observed, or in case of identification of a candidate mutation with insufficient knowledge to consider it as pathogenic or not.
The aim of this project is to identify the cause of neurogenetic diseases in patients in situations of diagnostic wandering or dead ends by proposing the analysis of RNA and/or proteins from different tissues.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Qualification: Category 2 Product or procedure: excluding health products (products not mentioned in Article L.5311-11 of the Public Health Code)
| Arm | Type | Receives |
|---|---|---|
| Controls | Other | Genetic: RNA and/or DNA methylation and/or protein analysis* Patients with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls * Unaffected relatives, showing no symptoms of the disease after the expected age of onset of symptoms in the family |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- 1a. Patient, major or minor, with a neurological disease affecting the central nervous system, who has already benefited from a genomic analysis (panel, exome or genome sequencing) as part of routine care, with inconclusive analysis because the result was either a variation of uncertain significance or the absence of a variant of interest (patients with inconclusive genomic results).
- 1b. Patient with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls).
- A relative of a type 1a. or 1b. patient with no symptoms of the disease, after the expected age of onset of symptoms in the patient's own family (healthy relatives).
- Affiliation with a social security scheme
- Agreement to take part in the study with signature of a specific informed consent form for the study.
Key exclusion criteria (3 listed)
- For patients with inconclusive results: Patient with a neurological disease not suspected of a monogenic or oligogenic cause
- For healthy relatives: existence of a neurological disease (other than uncomplicated migraine) or psychiatric disease (other than simple anxiety stable under treatment).
- -
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 and/or DNA methylation and/or protein analysisRNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells | Genetic | Controls |
Primary outcome
number and proportion of patients
Time frame: through study completion, an average of 5 years
number and proportion of patients in the "Patients with inconclusive results" group for whom a final diagnosis can be made at the end of this research.
2 secondary outcomes
Inclusion
Time frame: through study completion, an average of 5 years
Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
Time frame: through study completion, an average of 5 years
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 2 May 2025.
- Individual participant dataSharing planned: No
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing RNA and/or DNA methylation and/or protein analysis in people with Neurogenetic Diseases, run by University Hospital, Rouen at 1 site 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 7 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 2 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Gaël Nicolas, MD, PhD (0033232888747, gael.nicolas@chu-rouen.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number and proportion of patients (time frame: through study completion, an average of 5 years). 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 2 May 2025.