Effects of diabetes medication on brain development in children with a specific genetic condition
Impact of Timing of Initiation of Sulphonylurea Therapy on Neurodevelopmental Outcomes in Individuals With Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome Due to the V59M Mutation in the KCNJ11 Gene
This study is testing if starting a diabetes medication early can help improve brain development in children with a specific genetic condition called iDEND syndrome.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 21 (estimated) |
| Ages | 2 Years to 50 Years |
| Sex | All |
| Sponsor | Royal Devon and Exeter NHS Foundation Trust Academic / other |
| Locations | 4 sites (Chicago, Illinois and 3 other locations) |
| Trial ID | NCT05751525 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate how the diabetes drug glibenclamide (glyburide) affects neurodevelopmental outcomes in children with iDEND syndrome, which is linked to a mutation in the KCNJ11 gene. The study will compare neurodevelopmental assessments of participants who start sulphonylurea therapy before 12 months of age to those who begin treatment later. Assessments will include standardized questionnaires completed by parents and teachers, as well as face-to-face neuropsychological testing when possible. The goal is to determine if early treatment leads to better developmental outcomes.
Who should consider this trial
Good fit: Ideal candidates are children aged 2 years or older who have the V59M mutation in the KCNJ11 gene and have successfully transitioned to oral sulphonylurea therapy.
Not a fit: Patients who have never been able to transition to oral sulphonylurea therapy or are unwilling to participate will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved neurodevelopmental outcomes for children with iDEND syndrome through early intervention with sulphonylureas.
How similar studies have performed: While this specific approach is novel, similar studies have shown that early intervention in genetic conditions can lead to improved outcomes.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Current age ≥2 years * Heterozygous for a V59M mutation in the KCNJ11 gene * Successfully transferred to oral sulphonylurea therapy * Willing to participate Exclusion Criteria: * Never able to transfer to oral sulphonylurea therapy * Unwilling to participate
Where this trial is running
Chicago, Illinois and 3 other locations
- University of Chicago — Chicago, Illinois, United States (Recruiting)
- University of Rome — Rome, Italy (Recruiting)
- University of Bergen — Bergen, Norway (Recruiting)
- University of Exeter — Exeter, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Prof Andrew Hattersley — University of Exeter / Royal Devon University Healthcare Trust
- Study coordinator: Dr Pamela Bowman, MBBS MSc PhD
- Email: P.Bowman@exeter.ac.uk
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.