MYT1L SyndromeMYT1LNCT07008612
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
A study testing Patients with a genetic syndrome linked to the MYT1L gene and Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L in people with MYT1L Syndrome, run by University Hospital, Rouen at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- MYT1L Syndrome
- What is being tested?
- Patients with a genetic syndrome linked to the MYT1L gene and Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 45 participants
- Where
- 1 siteFrance
- Study dates
- 4 Feb 2025to 20 Mar 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Show all 11Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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).
- Conditions
- MYT1L Syndrome
- Being tested
- Patients with a genetic syndrome linked to the MYT1L gene, Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
- Keywords
- combination of symptoms and physical features which are found together in a person and are all due to the same underlying cause
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patients with a genetic syndrome linked to the MYT1L geneDiagnostic 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 MYT1LDiagnostic test
Evaluation de la prosodie par l'orthophoniste (45 minutes)
| Study group | Role | What they receive |
|---|---|---|
| MYT1L Arm | Experimental | Not described Receives: 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. Receives: Diagnostic Test: Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: At enrollment visit
Secondary outcomes (3)
Speech-language profile
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
Measured: At enrollment visit
Prosodic speech therapy profile (patients with MYT1L syndrome)
Evaluation of the prosodic profile of patients with MYT1L syndrome by voice recordings
Measured: At enrollment visit
Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)
Evaluation of the prosodic profile of patients with a molecular diagnosis other than MYT1L by voice recordings
Measured: At enrollment visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2025
- Study start4 Feb 2025
- Primary completion20 Mar 2026
- Study completion20 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MYT1L SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, RouenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 45 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07008612
- Sponsor's protocol ID
- 2024/0255/HP
- Other IDs
- 2024-A02492-45
- Acronym
- MYT1L
- Status last verified
- Jun 2026
- First submitted
- 28 May 2025
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The data provided will be the property of the sponsor and will be used solely for its own research activities.
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterisation of Language and Prosody Disorders, Cognitive Functioning and Behavioural Problems in MYT1L Syndrome
- ClinicalTrials.gov ID
- NCT07008612
- Acronym / sponsor ID
- MYT1L / 2024/0255/HP
- 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
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 45 participants (actual)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Study start
- 4 Feb 2025 (actual)
- Primary completion
- 20 Mar 2026 (actual)
- Study completion
- 20 Mar 2026 (actual)
- First posted
- 6 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| MYT1L Arm | Experimental | Diagnostic Test: Patients with a genetic syndrome linked to the MYT1L gene |
| Control Arm | Active comparator | Diagnostic Test: Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1LConsisting of verbally communicative patients with another genetically determinded neurodevelopmental disorder that has been confirmed at the molecular level. |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (11 listed)
- 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
Key exclusion criteria (8 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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 | MYT1L Arm |
| Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1LEvaluation de la prosodie par l'orthophoniste (45 minutes) | Diagnostic test | Control Arm |
Primary outcome
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
3 secondary outcomes
Speech-language profile
Time frame: At enrollment visit
Prosodic speech therapy profile (patients with MYT1L syndrome)
Time frame: At enrollment visit
Prosodic speech therapy profile (patients with a molecular diagnosis other than MYT1L)
Time frame: At enrollment visit
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Nov 2026.
- Individual participant dataSharing planned: Yes. The data provided will be the property of the sponsor and will be used solely for its own research activities.
Related trials for MYT1L Syndrome
RecruitingObservational study
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Patients with a genetic syndrome linked to the MYT1L gene and Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L in people with MYT1L Syndrome, run by University Hospital, Rouen at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Speech-language profile (time frame: At enrollment visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Nov 2026.