Impact of Sulphonylureas on Neurodevelopmental Outcomes in KCNJ11-related Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome
Researchers are investigating the impact of a common diabetes medication, sulphonylurea, on the brain development of individuals with a rare genetic condition called iDEND syndrome. This syndrome involves developmental delay, epilepsy, and diabetes present from birth, caused by a specific change (V59M mutation) in the KCNJ11 gene. The main aim is to find out if starting sulphonylurea treatment within the first year of life makes a difference to how children and adults develop, compared to those who start the medication later. Participants will have their development assessed through questionnaires for parents and teachers, and some may have face-to-face tests. This helps researchers understand the best timing for this treatment to support brain development.
At a glance
What is this study about?
This study is about a condition called iDEND syndrome, which is a rare genetic condition affecting brain development, causing epilepsy (seizures), and leading to diabetes from birth. It's caused by a specific tiny change, called a V59M mutation, in a gene called KCNJ11. This gene is important because it tells our bodies how to make a special 'channel' that helps cells work properly, especially in the pancreas (which makes insulin) and in the brain.
People with iDEND syndrome often experience delays in their development, learning difficulties, and sometimes conditions like ADHD or autism. The good news is that the diabetes part of this condition can often be treated with a medicine called sulphonylurea, which is usually taken as a tablet, instead of insulin injections. We know this medicine works well for controlling blood sugar, but scientists are now keen to understand its effects on brain development.
By looking at people who started sulphonylurea treatment at different ages, the study hopes to discover if starting it within the first year of life leads to better brain development compared to starting it later. This could help doctors decide the best time to start this treatment for children with iDEND syndrome, potentially improving their developmental outcomes and overall quality of life.
Key takeaways
- This study aims to understand the best timing for sulphonylurea treatment in iDEND syndrome.
- It focuses on how early treatment affects brain development in children and adults.
- Participation involves developmental assessments, not changes to medication.
- Helping researchers may improve understanding for future patients with iDEND syndrome.
- The study includes individuals aged 2 to 50 who have the specific KCNJ11 gene mutation and are on sulphonylurea.
Who may be eligible?
To take part in this study, you need to be at least 2 years old and no older than 50. A key requirement is that you must have a specific genetic change, called the V59M mutation, in your KCNJ11 gene, which is what causes the iDEND syndrome. You also need to have successfully switched from insulin to sulphonylurea tablets for your diabetes.
They won't be able to include you if you never managed to switch to sulphonylurea treatment. Also, if for any reason you don't wish to participate, that's perfectly fine; participation is always voluntary. Anyone who meets these criteria, regardless of whether they are male or female, is welcome to consider taking part.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Are you between 2 and 50 years old?
- Do you have the V59M change in your KCNJ11 gene?
- Are you currently taking sulphonylurea tablets for your diabetes?
- Are you willing to participate in assessments?
What does participation involve?
If you decide to take part, your involvement will focus on assessing your brain development. This will involve you, and possibly your parents and teachers, filling out some questionnaires. These questionnaires are standard tools used to understand different aspects of development, including learning, behaviour, and social skills.
In some cases, if possible and appropriate, you might also be asked to do some face-to-face tests with a specialist. These tests are designed to get a deeper understanding of your thinking skills and how your brain works. The researchers will then compare your results with others in the study to see if starting sulphonylurea early had an impact. There are no changes to your medication or additional medical treatments involved in this study. The total duration of your direct participation would involve completing these assessments, which will be discussed in detail if you are eligible and interested.
Potential risks and benefits
Locations (4)
- University of ChicagoVerified postcodeChicago, United States· Recruiting
- University of RomeVerified postcodeRome, Italy· Recruiting
- University of BergenVerified postcodeBergen, Norway· Recruiting
- University of ExeterVerified postcodeExeter, United Kingdom· Recruiting
Common questions
What is iDEND syndrome?
It's a rare genetic condition causing developmental delays, epilepsy, and diabetes from birth.
What is sulphonylurea?
It's an oral medication, usually a tablet, used to treat diabetes, particularly in people with iDEND.
Will my medication change if I join?
No, this study is observational; your current treatment will not be altered.
What does 'neurodevelopmental assessment' mean?
It means checking how a person's brain develops and functions, including learning and behaviour.
Who is funding this research?
The information provided does not specify the funding source for this clinical trial.
How to find out more
Dr Pamela Bowman, MBBS MSc PhD
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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