Landmark clinical trial brings first hope for children with Wolfram Syndrome

Posted on the 13th May 2019

Recruitment has started for children, young people and adults with Wolfram Syndrome to the first ever clinical trial into a medicine which has shown promise in laboratory tests to slow down the progression of this rare disease.

The team running the international TREATWOLFRAM trial plans to recruit 70 patients from four countries and will report their findings in 2023 following three years of monitoring to test the real-life effects on patients.

This exciting research will test the medicine, sodium valproate, which is already widely available and commonly prescribed for epilepsy and migraine, to investigate its ability to slow down the loss of sight – a common symptom in Wolfram Syndrome.

There is currently no cure or treatment for this rare, life-limiting genetic condition where symptoms such as diabetes, renal and neurological complications develop in early childhood often leading to blindness and other problems.

Professor Timothy Barrett, Honorary Consultant in Paediatric Endocrinology and Diabetes and Professor of Paediatrics at University of Birmingham, is heading up the trial, which is funded by the Medical Research Council and sponsored by the University of Birmingham.

Local investigators Dr Renuka Dias and Dr Benjamin Wright  are working closely with national children’s charity, WellChild, and Wolfram Syndrome UK to incorporate the needs and perspective of families affected by the condition into the trial design and to facilitate effective communication, along with the necessary support for people taking part.

Professor Barrett said:

“The children’s charity WellChild has supported research into this condition for more than 20 years. Their investment, and the support of Wolfram Syndrome UK, has been crucial to the development of the TREATWOLFRAM trial. Thanks to WellChild and Wolfram Syndrome UK, and a fantastic team of healthcare and research professionals, the first children were recruited in January 2019.”

Commenting on the impact on families and the hope that the clinical trial will provide evidence that sodium valproate slows down progression of Wolfram Syndrome, Professor Barrett added:

“This could give affected people more years of useful vision, and buy time while we await gene or other cell therapy treatments.”

Through a nationwide network of children’s nurses, home and garden transformation projects and family support services, WellChild exists to give the growing population of children and young people with serious illness the best possible chance to thrive at home with their families.

Building on a history of investment in medical research into rare diseases, including Wolfram Syndrome, WellChild currently funds a Wolfram Syndrome Family Coordinator, in partnership with Birmingham Children’s Hospital, part of Birmingham Women’s and Children’s NHS Foundation Trust.

WellChild’s Wolfram Syndrome Family Coordinator, Jody Blake, works with families affected by the condition to provide information, support and advice and  will play a vital role in supporting families taking part in the trial.

She said:

“Until now these families WellChild supports have had little hope of a treatment because the high cost of drug development and low patient numbers in rare diseases make investing in research financially unfeasible for the pharmaceutical industry.  Repurposing an established medication like sodium valproate to treat a new illness makes tremendous sense for rare diseases such as Wolfram Syndrome. These are exciting times and WellChild is privileged to be standing alongside families as the trial progresses.”

WellChild’s Wolfram Syndrome Family Coordinator, Jody Blake

The primary outcome the trial will be testing is vision, but the team will also be measuring the effects of the medicine on other symptoms of condition such as diabetes, general wellbeing, bladder function, mood, and gait and balance.

Two thirds of patients taking part in the trial will receive sodium valproate with the remainder receiving a placebo in this ‘double masked’ trial, which means that neither the trial team nor the participants will know which patients are taking the trial drug. Patients will be followed up regularly for three years to monitor rates of progression of the disease.

This trial offers hope to families affected by Wolfram Syndrome of joining the small number of 400 out of the 7,000 rare diseases which have a licenced treatment*.

For some people, including Chief Executive and Co-Founder of Wolfram Syndrome UK, Tracy Lynch, the news that the trial has started is bitter sweet. Some patients, including her 17-year-old daughter, Jennifer, whose sight has deteriorated beyond a certain level are ineligible for the trial because its primary outcome is linked to loss of sight.

Tracy and Paul Lynch set up the support group after their daughter was diagnosed with Wolfram Syndrome. They provide support to individuals and their families affected by Wolfram Syndrome, to raise awareness amongst doctors and fund research and the annual family conference.

Looking to a brighter future, Tracy is encouraging families affected by Wolfram Syndrome to remain strong. She said:

“There’s lots of work being done all around the world to help everyone in the Wolfram Syndrome community. The trial will be over very soon with the potential of everyone being able to get the trial medication.”

12-year-old Asal, from London, is one of the next group of young people to be considered to take part in the trial. She was diagnosed aged nine when her local doctors made a link between her diabetes and deteriorating sight and undertook genetic testing.

Asal is learning Braille and touch-typing to a high standard and with support doing well in mainstream school.

Her mother Shahla Mehrabani said:

“I am keeping my fingers crossed that this trial will be a success. I have always tried to give Asal hope that a miracle will happen for her. It will be really helpful to have Jody from WellChild by our side. She is already someone I go to with questions and help with practical matters.”

To find out more about WellChild’s work supporting those with Wolfram Syndrome click here.

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