Clinical trial · Observational
Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk
EMeRiT: Quantitative Assessment of the Etiologies of Megalencephaly Associated With a Detectable Tumor Risk
NCT07142772CI-TRIAL-00094171EMeRiTnot yet recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
This study will show the value of early genetic diagnosis in the case of MEG in a child and may lead to recommendations aimed at preventing tumor risk based on a simple and easily accessible clinical criterion (the measurement of head circumference). Ultimately, this study may improve cancer prognosis in the population of children with MEG.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Megalocephaly | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (1)
- label
- Children having macrocephaly with or without neurodevelopmental disorders
- description
- Children having macrocephaly ≥+3 SD due to brain MRI-confirmed MEG, with or without neurodevelopmental disorders, who have undergone genome sequencing
Primary outcomes (1)
- measure
- Characterization of the etiologies of MEGs associated with tumor risk in 200 children with or without NDD, who underwent genome sequencing.
- timeFrame
- Within 6 Months after last patient inclusion
- description
- The investigator will study the diagnostic performance, i.e. the proportion in the sample of class 4 (probably pathogenic) or 5 (pathogenic) variants according to the American College of Medical Genetics (ACMG) classification
Secondary outcomes (4)
- measure
- To compare the diagnostic returns of the 2 patient groups
- timeFrame
- Within 6 Months after last patient inclusion
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: 1. Patients with macrocephaly ≥ +3 DS due to brain MRI-confirmed MEG with or without NDD 2. Patient with a proposal to investigate a genetic etiology by genome sequencing 3. No objection by the patient's parents or guardians 4. Patients affiliated to a social security scheme Exclusion Criteria: * Patients with an etiological diagnosis of its MEG * Patients who have previously undergone genetic testing as part of their MEG, with or without a diagnosis * Patients who have not received the standard-of-care genetic analysis, specifically whole genome sequencing
References
Publications (0)
Data not yet available
No reference posted for this study.