Neurofibromatosis type 1: repurposing existing drugs for treating young people with this rare condition

Neurofibromatosis type 1 (NF1) is a genetic condition that affects around 1 in 3,500 people.[1] A child with NF1 will develop multiple tumours in their nervous system, which increase throughout their lifetime. These tumours can cause distressing symptoms including pain and movement difficulties – and in some cases, they can become cancerous – which sadly, can be fatal. Currently, there is no cure for NF1. Professor Benjamin Housden of the University of Exeter is investigating the potential of using two existing drugs to treat NF1 tumours. His laboratory work could ultimately lead to a much-needed new treatment option – offering hope of a brighter future for young people with NF1 and their families.

This project is jointly funded by Action Medical Research and LifeArc.

How are children’s lives affected now?

Neurofibromatosis type 1 (NF1) is caused by a faulty gene and is usually diagnosed during childhood. Symptoms are often mild to moderate and vary from person to person. These include light brown skin patches, known as café-au-lait spots, tumours growing under the skin and along nerves that can cause discomfort and disfigurement, sight loss and pain. 

“As a child gets older, usually during their teens or early adulthood, they often develop multiple benign (non-cancerous) tumours that usually grow under the skin or along nerves, which can cause distressing complications if they affect nerve tissue or press on internal organs,” says Professor Housden. “Unfortunately, these tumours can sometimes become cancerous.” 

While some NF1 tumours can be removed surgically, this is not always possible. And the only currently approved drug treatment, selumetinib, isn’t always effective and can cause serious side effects.

“We desperately need new treatments that can slow down or stop the growth of NF1 tumours – enabling young people to look forward to longer, better lives,” says Professor Housden. 

How could this research help?

“Our ultimate aim is to develop an effective new treatment for children with NF1 by repurposing drugs already used to treat other diseases,” says Professor Housden.

The researchers have identified two existing drugs – one used for malaria (chloroquine) and the other for HIV infections (AZT) – that show promise for treating NF1 tumours, either alone or combined with selumetinib. 

“We will now carry out further tests in a laboratory model of NF1 – to determine which treatment is most effective at specifically killing tumour cells and reducing tumour size,” says Professor Housden.

Developing new drug treatments that are more effective and have fewer side effects than current options could help improve the quality of life for children with NF1.

“We hope our results will lay the foundations for clinical trials involving NF1 patients as soon as possible,” says Professor Housden. “Since these drugs are already in use and their safety and dosage are established, this should help accelerate this process.”

References

1. Sur ML, et al. Neurofibromatosis in Children: Actually and Perspectives. Children (Basel). 2022;9(1):40

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.