University Hospital of Rouen
Rouen, 76031, France
Location status: Recruiting
Recruiting
NCT Number: NCT07008612
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
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.
Recruiting
Interested in participating?
Request InfoKey information
Conditions
Age range
6 year and older
Sex eligibility
All sexes
Study type
Interventional
Phase
Not applicable
Primary location
About this study
Although neuropsychological and speech therapy assessment is part of the routine work-up of any patient with a neurodevelopmental disorder, the heterogeneous use of assessment scales has not made it possible to obtain a precise characterisation of the neuropsychological and language profile of patients with MYT1L syndrome in retrospective studies. As a result, it is not possible to establish specific language and behavioural rehabilitation treatments. The aim of the study is to provide substantiated information on language (oral language, speech), prosody (reception and expression) and cognitive-behavioural aspects (global IQ, executive functions, sensory profile, attention, aggression, intolerance to frustration, anxiety). This project proposes to carry out a protocol used in routine care to assess language, prosody, cognitive functions and mood disorders, with the aim of identifying a specific language, prosody, cognitive and behavioural profile of patients with MYT1L syndrome, which could lead to better assessment in the future, screening for disorders and better targeting of rehabilitation in future patients, and to identify profiles suggestive of MYT1L syndrome in patients who have not had genetic confirmation (no variation identified or variation of uncertain significance).
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
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
Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
Diagnostic TestEvaluation de la prosodie par l'orthophoniste (45 minutes)
Primary outcomes
-
Speech-language profile
Time frame: At enrollment visit
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
Secondary outcomes
-
Speech-language profile
Time frame: At enrollment visit
Assessment of the language profile through standardized tests completed with the patient during the interview with the speech therapist and questionnaires completed by the family
-
Prosodic speech therapy profile (patients with MYT1L syndrome)
Time frame: At enrollment visit
Evaluation of the prosodic profile of patients with MYT1L syndrome by voice recordings
-
Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)
Time frame: At enrollment visit
Evaluation of the prosodic profile of patients with a molecular diagnosis other than MYT1L by voice recordings
Study contacts
Contact information is provided by the study sponsor or research team.
David DM MALLET, Director
CONTACT
02 32 88 82 65 ext. +33
Vincent VF FERRANTI, ARC
CONTACT
02 32 88 82 65 ext. +33
Sponsors and collaborators
Lead sponsor
University Hospital, Rouen
Other
Registry information
Official study title
Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome
Acronym: MYT1L
Important dates
- Study start
- 2025
- Primary completion
- 2027
- Study completion
- 2027
- First posted
- Jun 6, 2025
- Registry last updated
- Jun 8, 2026
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.