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NCT07008612: MYT1L
MYT1L Syndrome: a Rare Paediatric Genetic Syndrome Responsible for a Neurodevelopmental Disorder
trial testing Patients with a genetic syndrome linked to the MYT1L gene in MYT1L Syndrome in 50 participants. Currently enrolling.
1 May 2027
Quick facts
| Lead sponsor | University Hospital, Rouen |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 50 |
| Start date | 4 February 2025 |
| Primary completion | 1 May 2027 |
| Estimated completion | 1 November 2027 |
| Sites | 1 location across France |
Drugs / interventions tested
- Patients with a genetic syndrome linked to the MYT1L gene
- Patients with a neurodevelopmental disorder of genetic origin but not linked to MYT1L
Conditions studied
- MYT1L Syndrome — all drugs for MYT1L Syndrome →
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.
Verify or expand the search:
- PubMed search for NCT07008612
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT07008612 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by University Hospital, Rouen
- Last refreshed: 6 June 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT07008612.
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