Impact of Sulphonylureas on Neurodevelopmental Outcomes in KCNJ11-related Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome

Launched by ROYAL DEVON AND EXETER NHS FOUNDATION TRUST · Feb 20, 2023

Keywords

ClinConnect Summary

This clinical trial is studying how a diabetes medication called glibenclamide (also known as glyburide) affects brain development in children and young adults with a specific genetic condition called iDEND syndrome. This condition can cause developmental delays, epilepsy, and diabetes due to a change in a gene called KCNJ11. The researchers want to find out if starting this medication during the first year of life leads to better brain development outcomes compared to starting it later, after the age of one.

To participate in this study, individuals must be at least 2 years old and have a specific genetic mutation related to iDEND. They also need to have successfully started taking the oral form of the medication. Participants will undergo assessments that include questionnaires filled out by their parents and teachers, as well as possible in-person testing to evaluate their development. The study is currently recruiting participants of all genders, and everyone involved will help researchers understand how the timing of medication affects brain development in this population.

Gender

ALL

Eligibility 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