Neurodevelopmental Disorder (Diagnosis)OGMNCT06851377
Expanding NGS Data with Optical Genome Mapping (OGM)
A study testing Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS) and Trascriptome analysis in people with Neurodevelopmental Disorder (Diagnosis), run by IRCCS Eugenio Medea at 1 site in Italy.
Trial summary
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Neurodevelopmental Disorder (Diagnosis)
- What is being tested?
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS) and Trascriptome analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteItaly
- Study dates
- 23 May 2024to Dec 2026
- 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 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- individuals without a molecular diagnosis (negative to ES/CMA analyses);
- individuals with genetic diagnoses that explain only one component of their primary phenotype;
- individuals carrying one or more variants of uncertain clinical significance
- individuals with a phenotype highly reminiscent of clinically and molecularly well-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecular analysis.
Who cannot join
- individuals who have not undergone initial diagnostic genetic tests (ES/CMA)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Cytogenetic Unit of Medical Genetic Laboratory
Bosisio Parini, Lecco, 23842
Maria C Bonaglia, Master Degree, +39 031877913
About this study
Official title: Expanding NGS Data with Optical Genome Mapping (OGM): More Comprehensive Variant Detection in Children with Unexplained Rare Genetic Disorders
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. New sequencing technologies are crucial for clinical decision-making, offering complete profiles of variants in a patient's DNA to personalize treatment. Optical Genome Mapping (OGM) can detect nearly all structural variants in one experiment. This project aims to use OGM alongside NGS to improve diagnostic yield in 60 children with severe disorders who tested negative for NGS/CMA.
- Conditions
- Neurodevelopmental Disorder (Diagnosis)
- Being tested
- Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Trascriptome analysis
- Keywords
- Optical Genome Mapping, neurodevelopmental disorders, genome sequencing
- Medical subject headings
- Neurodevelopmental Disorders, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)Genetic
After identifying causal SVs via OGM, WGS will determine rearrangement breakpoints and examine nearby genes within 100 kb that may have altered expression due to positional effects.
Trascriptome analysisOther
Following genomic characterization results, transcriptome analysis will be performed on patient-derived lymphoblastoid B-cell lines or fibroblasts to investigate the molecular implications of candidate SVs found in the OGM analysis and identify potential transcriptome abnormalities, such as splicing variants, in patients with atypical clinical features.
| Study group | Role | What they receive |
|---|---|---|
| Expanding NGS data with Optical Genome Mapping (OGM) | Experimental | OGM will be used alongside WGS to improve diagnostics in 60 children with severe NDDs lacking a molecular diagnosis after initial CMA and exome analyses. Receives: Genetic: Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS); Other: Trascriptome analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotype-phenotype correlation
Number of pathogenic structural variants found by OGM explaining the phenotype
Measured: once at recruitment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2025
- Study start23 May 2024
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodevelopmental Disorder (Diagnosis)Studies of the same condition, open and under way.
- 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
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06851377
- Sponsor's protocol ID
- 1089
- Acronym
- OGM
- Status last verified
- Feb 2025
- First submitted
- 24 Feb 2025
- Last updated
- 28 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Expanding NGS Data with Optical Genome Mapping (OGM): More Comprehensive Variant Detection in Children with Unexplained Rare Genetic Disorders
- ClinicalTrials.gov ID
- NCT06851377
- Acronym / sponsor ID
- OGM / 1089
- Conditions
- Neurodevelopmental Disorder (Diagnosis)
- Keywords
- Optical Genome Mapping, neurodevelopmental disorders, genome sequencing
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 23 May 2024 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 28 Feb 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.
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. New sequencing technologies are crucial for clinical decision-making, offering complete profiles of variants in a patient's DNA to personalize treatment. Optical Genome Mapping (OGM) can detect nearly all structural variants in one experiment. This project aims to use OGM alongside NGS to improve diagnostic yield in 60 children with severe disorders who tested negative for NGS/CMA.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Expanding NGS data with Optical Genome Mapping (OGM) | Experimental | Genetic: Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS), Other: Trascriptome analysisOGM will be used alongside WGS to improve diagnostics in 60 children with severe NDDs lacking a molecular diagnosis after initial CMA and exome analyses. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- individuals without a molecular diagnosis (negative to ES/CMA analyses);
- individuals with genetic diagnoses that explain only one component of their primary phenotype;
- individuals carrying one or more variants of uncertain clinical significance
- individuals with a phenotype highly reminiscent of clinically and molecularly well-defined syndromes (i.e., Marfan Syndrome) but negative to routine molecular analysis.
Key exclusion criteria (1 listed)
- individuals who have not undergone initial diagnostic genetic tests (ES/CMA)
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 |
|---|---|---|
| Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)After identifying causal SVs via OGM, WGS will determine rearrangement breakpoints and examine nearby genes within 100 kb that may have altered expression due to positional effects. | Genetic | Expanding NGS data with Optical Genome Mapping (OGM) |
| Trascriptome analysisFollowing genomic characterization results, transcriptome analysis will be performed on patient-derived lymphoblastoid B-cell lines or fibroblasts to investigate the molecular implications of candidate SVs found in the OGM analysis and identify potential transcriptome abnormalities, such as splicing variants, in patients with atypical clinical features. | Other | Expanding NGS data with Optical Genome Mapping (OGM) |
Primary outcome
Genotype-phenotype correlation
Time frame: once at recruitment
Number of pathogenic structural variants found by OGM explaining the phenotype
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 28 Feb 2025.
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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 Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS) and Trascriptome analysis in people with Neurodevelopmental Disorder (Diagnosis), run by IRCCS Eugenio Medea at 1 site in Italy.
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 4 inclusion and 1 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 28 Feb 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 Italy. 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 Maria Clara Bonaglia PhD (+39 031 877913, mariaclara.bonaglia@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotype-phenotype correlation (time frame: once at recruitment). 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 28 Feb 2025.