Neurodevelopmental Disorder (Diagnosis)NCT06347562
Optical Genome Mapping for the Diagnosis of Neurodevelopmental Disorders
A study testing Optical Genome Mapping in people with Neurodevelopmental Disorder (Diagnosis), run by IRCCS Eugenio Medea at 1 site in Italy.
Trial summary
to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders… Read more about this study
- Who is it for?
- Ages 2 to 17 years
- Conditions the study is for
- Neurodevelopmental Disorder (Diagnosis)
- What is being tested?
- Optical Genome Mapping
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 58 participants
- Where
- 1 siteItaly
- Study dates
- 15 Jun 2022to 14 Jun 2025
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Scientific Institute E. Medea
Bosisio Parini, Lecco, 23842
Clara Bonaglia, PhD, 031877913 ext. +39, clara.bonaglia@lanostrafamiglia.it
About this study
Official title: Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders (NDDs) with/wo congenital anomalies (CA)
- Conditions
- Neurodevelopmental Disorder (Diagnosis)
- Being tested
- Optical Genome Mapping
- 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 MappingGenetic
to evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling.
| Study group | Role | What they receive |
|---|---|---|
| Optical Genome Mapping | Experimental | explore the ability of Optical Genome Mapping (OGM) to detect known constitutional chromosomal aberrations. Receives: Genetic: Optical Genome Mapping |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic concordance rate
percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance
Measured: 30 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Apr 2024
- Study start15 Jun 2022
- Primary completion14 Jun 2025 (estimated)
- Study completion14 Jun 2025 (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.
- More trials run by IRCCS Eugenio MedeaThe 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
- Masking
- None (open label)
- Enrolment
- 58 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
- NCT06347562
- Sponsor's protocol ID
- 934
- Status last verified
- Apr 2024
- First submitted
- 21 Mar 2024
- Last updated
- 4 Apr 2024
- 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 4 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Next Generation Cytogenetics: Impact of New Technologies in the Genetic Diagnosis of Neurodevelopmental Disorders
- ClinicalTrials.gov ID
- NCT06347562
- Acronym / sponsor ID
- 934
- Conditions
- Neurodevelopmental Disorder (Diagnosis)
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 58 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 15 Jun 2022 (actual)
- Primary completion
- 14 Jun 2025 (estimated)
- Study completion
- 14 Jun 2025 (estimated)
- First posted
- 4 Apr 2024 (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.
to evaluate the ability of the Optical genome Mapping (OGM) approach to detect simple and complex constitutional chromosomal aberrations of clinical relevance, which had previously been identified with standard diagnostic approaches (karyotyping, FISH, CNV-microarray) in the context of neurodevelopmental disorders (NDDs) with/wo congenital anomalies (CA)
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Optical Genome Mapping | Experimental | Genetic: Optical Genome Mappingexplore the ability of Optical Genome Mapping (OGM) to detect known constitutional chromosomal aberrations. |
Who may qualify
- Ages
- 2 to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (1 listed)
- subjects with neurodevelopmental disorders carrying a structural variant identified by standard cytogenetic analyses (Karyotyping/FISH/Chromosomal Microarray Analysis)
Key exclusion criteria (1 listed)
- none
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 Mappingto evaluate the capability of OGM, its usefulness in clinical diagnosis, and its impact on genetic counseling. | Genetic | Optical Genome Mapping |
Primary outcome
Diagnostic concordance rate
Time frame: 30 months
percentage of concordance between optical genome mapping and standard assays (Karyotyping, Chromosomal Microarray Analysis) for all aberrations with clinical significance
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Apr 2024.
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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. This study is not recruiting at the moment.
Scientific Institute E. Medea
Bosisio Parini, Italy
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 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 1 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: status not confirmed, as of the sponsor's last update on 4 Apr 2024. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic concordance rate (time frame: 30 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 4 Apr 2024.