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

NCT07008612 | Completed

• 2 other identifiers: 2024/0255/HP2024-A02492-45
• Study Type: interventional
• Target: 45
• Locations: 1 country
• Sites: 1

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.

Conditions

MYT1L Syndrome

Keywords

combination of symptoms and physical features which are found together in a person and are all due to the same underlying cause

Outcome Measures

Primary Outcomes (1)

• Speech-language profile

  Evaluation of the neuropsychological profile during an interview with the neuropsychologist allowing the administration of standardized tests completed with the patient and through questionnaires completed by the family

  At enrollment visit

Secondary Outcomes (3)

• Speech-language profile

  At enrollment visit

• Prosodic speech therapy profile (patients with MYT1L syndrome)

  At enrollment visit

• Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)

  At enrollment visit

Study Arms (2)

MYT1L Arm

EXPERIMENTAL

Diagnostic Test: Patients with a genetic syndrome linked to the MYT1L gene

Control Arm

ACTIVE COMPARATOR

Consisting of verbally communicative patients with another genetically determinded neurodevelopmental disorder that has been confirmed at the molecular level.

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

Interventions

Patients with a genetic syndrome linked to the MYT1L gene DIAGNOSTIC_TEST

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

MYT1L Arm

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

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

Control Arm

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• MYT1L Group Patients
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (1)

University Hospital of Rouen

Rouen, 76031, France

Location

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 28, 2025
• First Posted: June 6, 2025
• Study Start: February 4, 2025
• Primary Completion: March 20, 2026
• Study Completion: March 30, 2026
• Last Updated: October 2, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)