Actively Recruiting
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
Led by University Hospital, Rouen · Updated on 2025-06-06
50
Participants Needed
1
Research Sites
142 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant is at least 6 years old
- Participant speaks French
- Consent from parents or legal guardian is obtained
- Participant has social security coverage
- For MYT1L group: diagnosis linked to the MYT1L gene
- For prosody group: diagnosis of a genetic neurodevelopmental disorder not linked to MYT1L
You will not qualify if you...
- Visual or hearing impairment that prevents assessments without aid
- Participant does not speak French
- Participant has a dual molecular genetic diagnosis causing neurodevelopmental disorder
- Participant has an acquired neurological disorder
- For prosody group: participant has confirmed MYT1L syndrome
- For prosody group: participant is nonverbal
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University Hospital of Rouen
Rouen, France, 76031
Actively Recruiting
Research Team
D
David DM MALLET, Director
CONTACT
V
Vincent VF FERRANTI, ARC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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