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NCT07008612: MYT1L

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

Recruiting now Last updated 6 June 2025
What this trial tests

trial testing Patients with a genetic syndrome linked to the MYT1L gene in MYT1L Syndrome in 50 participants. Currently enrolling.

Timeline
4 February 2025
Primary endpoint
1 May 2027
1 November 2027

Quick facts

Lead sponsorUniversity Hospital, Rouen
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment50
Start date4 February 2025
Primary completion1 May 2027
Estimated completion1 November 2027
Sites1 location across France

Drugs / interventions tested

Conditions studied

Sponsor

University Hospital, Rouen

Who can join

6 and older, any sex, with MYT1L Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other University Hospital, Rouen trials

Trials by the same sponsor.

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Data sources for this page

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