This project is jointly funded by Sparks and charity partner Great Ormond Street Hospital Children’s Charity through the National Research Funding Call.
Neurofibromatosis type 2 (NF2) is a rare, inherited disease that causes multiple tumours to grow in the brain, nerves and skin. Symptoms include deafness, facial nerve damage, cataracts leading to blindness, speech/swallowing problems and the weakness or paralysis of arms and legs. It affects an estimated one in every 33,000 births in the UK.
The most severely affected patients have huge numbers of tumours – and significant associated health problems – by the time they their reach teenage years. The average survival age after diagnosis with NF2 is only 15 years. Current treatments – surgery or radiotherapy – are only partially effective, cannot be used in the most serious cases, and can have unwanted side effects. New treatments are urgently needed.
Through previous lab work, Dr Sylwia Ammoun and her team at Plymouth University identified a molecule that is key to the growth and survival of some NF2-related tumours, including increasing their resistance to drug treatments. They now want to carry out further lab work to find out whether the same molecule is as influential in the growth and survival of more kinds of NF2-related tumours, including brain tumours. If it is, they could then identify drugs that target the molecule, offering new hope for more children with NF2. These treatments would first be tested in the lab, before being taken forward for clinical trial in the future.
Identifying new treatments for rare diseases like NF2 is extremely difficult. It relies on finding shared characteristics across patients that can be targeted using drugs or other treatments. If Dr Ammoun and her team can show that one particular molecule is a key driver of tumour growth and survival in all children with NF2, they can begin to identify drugs that could provide a one-size-fits-all treatment.
This could offer hope of an effective new treatment for children with NF2, including those who currently have no other options. A new, effective and safe treatment could prolong the lives of children with NF2, reducing the number of tumours in their body and devastating side effects such as deafness, blindness and paralysis.
Dr Ammoun said: “It’s fantastic to know that these two charities are making such a large amount available for child health researchers across the UK to bid for each year. We made large strides in last year’s study, and we’re looking forward to making more as a result of this funding.”
Understanding and developing treatments for tumours of brain, nerves and skin
Researcher: Sylwia Ammoun
Location: Plymouth University