Recruiting

Sulphonylureas

Sponsor:

Royal Devon and Exeter NHS Foundation Trust

Code:

NCT05751525

Conditions

Neurodevelopmental Disorders

Intellectual Disability

Development Delay

ADHD

Autism Spectrum Disorder

Eligibility Criteria

Sex: All

Age: 2 - 50

Healthy Volunteers: Not accepted

Interventions

Sulfonylurea

Study Details

Brief summary:

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

Neurodevelopmental Disorders

Intellectual Disability

Development Delay

ADHD

Autism Spectrum Disorder

Study ID

NCT05751525

Start date

Jul 1, 2016

Status verified date

Jun, 2024

Completion date

Dec 31, 2025

Anticipated

Primary completion date

Aug 1, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 50

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

21 participants

Anticipated

Interventions and Outcome Measures

Arms

Early SU treatment

Patients with permanent neonatal diabetes (PNDM) due to the V59M mutation in the KCNJ11 gene who commenced sulfonylurea therapy in the first twelve months of life.

Late SU treatment

Patients with permanent neonatal diabetes (PNDM) due to the V59M mutation in the KCNJ11 gene who commenced sulfonylurea older than the age of twelve months.

Interventions

Sulfonylurea

Glibenlclamide / glyburide

Primary outcome measure

  • Number and type of neurodevelopmental and psychiatric disorders [ Time Frame: At or up to 2 years after recruitment ]
  • Level of difficulty due to neurodevelopmental and psychiatric morbidity [ Time Frame: At or up to 2 years after recruitment ]
  • Impact on daily life [ Time Frame: At or up to 2 years after recruitment ]
  • IQ score [ Time Frame: Up to 3 years after recruitment ]

Central Contacts and Locations

Central contacts

Dr Pamela Bowman, MBBS MSc PhD

P.Bowman@exeter.ac.uk

Locations

University of Chicago

Recruiting

Chicago, Illinois, United States, 60637

More Information

Sponsor

Royal Devon and Exeter NHS Foundation Trust

Last update posted

Jun 13, 2024

Last verified

Jun, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Royal Devon and Exeter NHS Foundation Trust on 2024-06-13.