MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder (MYT1L)
June 4, 2026 updated by: University Hospital, Rouen
Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome
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.
Study Overview
Status
Recruiting
Conditions
Detailed Description
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).
Study Type
Interventional
Enrollment (Estimated)
50
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: David DM MALLET, Director
- Phone Number: +33 02 32 88 82 65
- Email: David.Mallet@chu-rouen.fr
Study Contact Backup
- Name: Vincent VF FERRANTI, ARC
- Phone Number: +33 02 32 88 82 65
- Email: Vincent.ferranti@chu-rouen.fr
Study Locations
-
-
-
Rouen, France, 76031
- Recruiting
- University hospital of Rouen
-
Contact:
- Juliette JC COURSIMAULT, Doctor
- Phone Number: +33 02 32 88 87 47
- Email: J.Coursimault@chu-rouen.fr
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Study Population
Pediatric and adult patients with MYT1L syndrome
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
|
Experimental: MYT1L Arm
|
|
|
Active Comparator: Control Arm
Consisting of verbally communicative patients with another genetically determinded neurodevelopmental disorder that has been confirmed at the molecular level.
|
Evaluation de la prosodie par l'orthophoniste (45 minutes)
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
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
|
At enrollment visit
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
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
|
At enrollment visit
|
|
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
|
At enrollment visit
|
|
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
|
At enrollment visit
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
February 4, 2025
Primary Completion (Estimated)
May 1, 2027
Study Completion (Estimated)
November 1, 2027
Study Registration Dates
First Submitted
May 28, 2025
First Submitted That Met QC Criteria
May 28, 2025
First Posted (Actual)
June 6, 2025
Study Record Updates
Last Update Posted (Actual)
June 8, 2026
Last Update Submitted That Met QC Criteria
June 4, 2026
Last Verified
June 1, 2026
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2024/0255/HP
- 2024-A02492-45 (Other Identifier: ANSM)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
YES
IPD Plan Description
The data provided will be the property of the sponsor and will be used solely for its own research activities.
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.