We are funding a new multi-million pound trial that will reveal if a simple nasal spray could improve daily life for people with Phelan-McDermid Syndrome.

For children and young people living with this rare genetic condition, a change in their SHANK3 gene impacts their nerve function, leading to wide-ranging effects on movement, speech, learning, sleep, digestion and even their mood.

Professor André Strydom who is leading the trial at King’s College London, hopes that the insulin, more commonly associated with diabetes treatment, could improve their quality of life.

“A huge challenge for the more than 3 million people in the UK living with a rare disease is getting access to approved treatments – currently more than 90% of rare conditions don’t have one – this needs to change. Innovative trials, including those that repurpose drugs used for other conditions, will be a crucial part of the solution. I look forward to seeing how this trial progresses and the tangible difference it could make to children and young adults living with Phelan-McDermid Syndrome.”

Sam Barrell, CEO of LifeArc

Professor Andre Strydom said, “There are very few effective treatment options for individuals with rare conditions that affect brain development, such as Phelan McDermid syndrome. With this trial, we will test whether insulin given intra-nasally will help to improve brain function and development, and provide much needed evidence to guide clinical care. We are delighted that LifeARC has funded this work, and look forward to working with the Phelan McDermid Syndrome Foundation (UK) on the research programme.”

The trial has been co-designed with parents of children and young people living with the condition, who identified the symptoms they’d most like to see improve for the greatest impact on quality of life.

The team hope to recruit around 100 children and young adults aged 3 – 18, starting in early 2027.

“After hearing that nasal insulin has been approved for use by both the Dutch and German health organisations, I knew we had to make the same treatment available to patients in the UK and beyond. I had no clue about the steps to get a clinical trial off the ground, but there is no better motivation than knowing a potential life-changing treatment is out there. I’m so happy to have found a fantastic research team (Kings College London) and a supportive funder in LifeArc. The most important currency to all families affected by Phelan-McDermid Syndrome is hope. This trial provides all of us with hope of positive, significant changes in the quality of life for our loved ones and ourselves.”

Andy Kulina, whose daughter, Olivia, lives with Phelan McDermid Syndrome

The role of insulin

Insulin receptors are not only found in the body, but also in the brain, where they help regulate nerve activity and cognitive function.

The hope is that by delivering the insulin nasally, it can reach the nerves in the brain without having an impact on glucose levels in the body. Early studies in other countries have shown promise, and the treatment is already available in some clinics in Germany and the Netherlands.

If the trial is successful, the aim is for the treatment to be available on the NHS.