NCT07008612 MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
| NCT ID | NCT07008612 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University Hospital, Rouen |
| Condition | MYT1L Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2025-02-04 |
| Primary Completion | 2027-05-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2025-02-04 with a primary completion date of 2027-05-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
MYT1L syndrome is a rare genetic syndrome, recently described in 2011, with paediatric onset, responsible for a neurodevelopmental disorder combining psychomotor retardation, learning difficulties and/or intellectual development disorders, epilepsy, overweight and eating disorders. The Rouen genetics department is currently positioned as a clinical expert in this disease. The study published in 2020 by our team (Coursimault J et al., Hum Genet. 2022, PMID: 34748075) has enabled us to describe 40 new individuals worldwide, to gain a better understanding of this disease, to specify the genotype-phenotype relationships and to describe new clinical signs. We were able to confirm the presence of a neurodevelopmental disorder in 100% of patients, which includes: language delay, impaired orality, global and facial hypotonia, prosodic features and behavioural problems. This will be the first study in the world to characterise the neuropsychological, language and prosodic profiles of MYT1L patients.
Eligibility Criteria
Inclusion Criteria: MYT1L Group Patients * Minimum age for inclusion: 6 years * Maximum age for inclusion: no upper age limit * Language: French * Consent of parents or legal guardian * Social security coverage required Prosody Group Patients * Unaided visual or hearing impairment making assessments impossible * Non-French speaking patients * Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder * Acquired neurological disorder Exclusion Criteria: MYT1L Group patients * Unaided visual or hearing impairment making assessments impossible * Non-French speaking patients * Patients with a dual molecular genetic diagnosis also causing a neurodevelopmental disorder * Acquired neurological disorder Prosody Group Patients * Patients with molecularly confirmed MYT1L syndrome. * Nonverbal patients
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07008612 clinical trial?
This trial is open to participants of all sexes, aged 6 Years or older, studying MYT1L Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07008612 currently recruiting?
Yes, NCT07008612 is actively recruiting participants. Contact the research team at David.Mallet@chu-rouen.fr for enrollment information.
Where is the NCT07008612 trial being conducted?
This trial is being conducted at Rouen, France.
Who is sponsoring the NCT07008612 clinical trial?
NCT07008612 is sponsored by University Hospital, Rouen. The trial plans to enroll 50 participants.