Actively Recruiting

Age: 2Years - 50Years
All Genders
NCT05751525

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

Led by Royal Devon and Exeter NHS Foundation Trust · Updated on 2024-06-13

21

Participants Needed

4

Research Sites

495 weeks

Total Duration

On this page

Sponsors

R

Royal Devon and Exeter NHS Foundation Trust

Lead Sponsor

U

University of Chicago

Collaborating Sponsor

AI-Summary

What this Trial Is About

The goal of this observational study is to learn about the impact of the diabetes drug glibenclamide (glyburide) on neurodevelopment in individuals with iDEND (developmental delay, epilepsy and neonatal diabetes) due to the V59M mutation in the KCNJ11 gene. The main question it aims to answer is whether initiating sulphonylurea (SU) therapy in the first year of life results in better neurodevelopmental outcomes in affected individuals, in comparison to starting therapy later than 12 months of age. Participants will undergo a neurodevelopmental assessment comprising parental and teacher completion of standardised questionnaires, and where possible face to face neuropsychological testing. Researchers will compare the outcomes of these standardised tests in the individuals who started SU therapy \<12 months of age in comparison to those who started \>12 months of age.

CONDITIONS

Official Title

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

Who Can Participate

Age: 2Years - 50Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Current age 2 years or older
  • Heterozygous for the V59M mutation in the KCNJ11 gene
  • Successfully transferred to oral sulphonylurea therapy
  • Willing to participate in the study
Not Eligible

You will not qualify if you...

  • Never able to transfer to oral sulphonylurea therapy
  • Unwilling to participate in the study

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

1
2
3
+1

Trial Site Locations

Total: 4 locations

1

University of Chicago

Chicago, Illinois, United States, 60637

Actively Recruiting

2

University of Rome

Rome, Italy

Actively Recruiting

3

University of Bergen

Bergen, Norway

Actively Recruiting

4

University of Exeter

Exeter, United Kingdom

Actively Recruiting

Loading map...

Research Team

D

Dr Pamela Bowman, MBBS MSc PhD

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

2

Not the Right Trial for You?

Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.

Already have an account? Log in here