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MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder

NCT07008612 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2025-06-06

No results posted yet for this study

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.

Conditions

  • MYT1L Syndrome

Interventions

DIAGNOSTIC_TEST

Patients with a genetic syndrome linked to the MYT1L gene

* Neuropsychological assessment by the neuropsychologist (lasting 1h30) * Speech and language assessment (including language and prosody) by the speech therapist, lasting 1h30

DIAGNOSTIC_TEST

Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L

Evaluation de la prosodie par l'orthophoniste (45 minutes)

Sponsors & Collaborators

  • University Hospital, Rouen

    lead OTHER

Eligibility

Min Age
6 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-02-04
Primary Completion
2027-05-01
Completion
2027-11-01

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07008612 on ClinicalTrials.gov