Neurofibromatosis type two - tackling disabling tumours with new drugs
First published on 24 March 2011
Updated on 29 July 2015
What did the project achieve?
“Our ultimate goal is to develop new treatments for people with a genetic condition called neurofibromatosis type two, or NF2,” says Professor Oliver Hanemann of the University of Plymouth.
NF2 is typically diagnosed during teenage years or early adulthood, when people develop multiple tumours that grow along nerves. Although these tumours are not cancerous, and often grow slowly, they cause distressing symptoms that get worse over time, such as hearing loss, ringing in the ears, balance problems and headaches.
Around one in 35,000 people has NF2.1 In England, for example, around 860 people have the condition.1
Sadly, there’s no cure for NF2. It’s possible to remove some tumours with surgery, or treat them with radiotherapy, but the risks often outweigh the benefits and, as time goes by, more tumours appear. People with NF2 can have as many as 20–30 tumours.
“Our work in this project has made it easier to study how NF2 tumours grow,” says Professor Hanemann. “We have identified molecules in the tumour cells that control tumour growth. These molecules are suitable targets for drug treatment. In follow-up work, we’ve identified two possible drug treatments that we’re taking forward into clinical trials, in the hope of eventually improving the lives of people with NF2.”
1. The Neuro Foundation. What is neurofibromatosis? NF2. http://www.nfauk.org/what-is-neurofibromatosis/nf-type-2/ Website accessed 26 February 2015.
This research was completed on 31 October 2013
Around 1,000 people in the UK have been diagnosed with a rare genetic illness, called neurofibromatosis type two (NF2),1 which is typically first noticed during teenage years and early adulthood. Sufferers develop benign tumours, which can cause distressing symptoms including hearing loss, ringing in the ears and balance problems. Surgery to remove tumours is not always possible and can cause side effects. Researchers are hoping to improve the outlook for people with NF2 by working towards new drug treatments.
- What's the problem and who does it affect?
- What is the project trying to achieve?
- What are the researchers' credentials?
- Who stands to benefit from this research and how?
What's the problem and who does it affect?
NF2 - tumours can cause long-term disability
Each year in the UK, around 40 people are newly diagnosed with a genetic illness called neurofibromatosis type two (NF2).1 Many are teenagers or young adults.2,3
People with NF2 develop tumours around nerves in their body, particularly in the brain, the spinal cord, and under the skin. The tumours are slow growing, but can cause a range of distressing symptoms, including hearing loss, ringing in the ears and balance problems.
As time goes by, more tumours tend to appear, meaning symptoms can worsen. Sufferers can eventually become deaf and have significant balance problems, meaning they may need to use a wheelchair. They may also have facial weakness, headaches and vision problems.
There is no cure for NF2. Surgery to remove a tumour can help, but it can cause unpleasant side effects, it is not always possible and new tumours can still appear.
Earlier diagnosis and care in specialist centres are improving the outlook for young people with NF2. Sadly, though, the illness still progresses and life expectancy can be reduced. There remains an urgent need for better ways to tackle this disabling illness.
What is the project trying to achieve?
Finding drug treatments for NF2
The researchers aim to find new drug treatments for people with NF2.
Preliminary evidence suggests naturally occurring proteins in the body, called insulin-like growth factors (IGFs), are involved in the development of tumours in people who have NF2.
In this project, the researchers are investigating the role of IGFs in the growth and development of tumours in more detail, using tumour cells donated by people with NF2.
The researchers are also investigating how several different drugs affect the growth and survival of NF2 tumour cells. They are choosing drugs that they think might have the ability to block the action of IGFs in the cells. Many of these drugs are commercially available or are already in clinical trials for other illnesses. This could speed up the process of developing them for use in NF2.
Any drugs that show promise in the laboratory will be tested in small-scale clinical trials, to obtain preliminary data on how effective and safe they are. It is hoped that around 15 people with NF2 will take the drugs for around 10-12 days.
What are the researchers' credentials?
|Project Leader||Professor C O Hanemann MD FRCP|
|Location||Clinical Neurobiology department, Institute of Biomedical and Clinical Science, Peninsula Medical School, Plymouth|
|Grant awarded||23 November 2010|
|Start date||30 June 2011|
|End date||31 October 2013|
|Grant code||SP4600, GN1792|
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The research team has been studying NF2 since 1996 and has published many influential papers on the disease. They successfully developed a model for studying NF2 in the laboratory, which involves cultures of tumour cells taken from patients with the illness. This important model – the first of its kind – has enabled the team to acquire a significantly better understanding of how these tumours develop.
The researchers’ advancing knowledge is bringing them closer to finding new treatments for NF2, as evidenced by their identification of several candidate drugs, many of which are being tested in this project. Indeed, they have become world leaders in this area of research.
Professor Oliver Hanemann, the project leader, is chair of clinical neurobiology at the highly-ranked Peninsula Medical School in Plymouth. He is committed to developing new NF2 therapies for clinical use and runs a nationally recognised specialist clinic for people with NF2.
Who stands to benefit from this research and how?
Giving hope to young people with NF2
The researchers’ ultimate aim is to improve the lives of everyone who is suffering from NF2, a disabling disease that is often diagnosed during teenage years and early adulthood. NF2, a genetic illness, is sometimes inherited but can also arise by chance. Around 1,000 people are currently diagnosed with the illness in the UK.1
The researchers aim to develop new drug treatments for NF2. If any of the candidate drugs that they are testing in this project show promise, then it is hoped that larger-scale clinical trials will follow.
Currently, people with NF2 face the stark fact that they are likely to develop more and more tumours as time goes by. Many undergo several operations, to remove individual tumours one by one.
If researchers can find a new drug that stops tumours from growing any bigger, then sufferers could be spared from having to undergo yet more surgery. Drugs that do even more, making tumours shrink in size, could offer even greater benefits.
- The Neurofibromatosis Association. NFA News. July 2010 http://www.nfauk.org/uploads/NF2%20Summer%20Newsletter%202010.PDF website accessed 2 March 2011.
- National Institute of Neurological Disorders and Stroke. National Institutes of Health, USA. Neurofibromatosis fact sheet. http://www.ninds.nih.gov/disorders/neurofibromatosis/detail_neurofibroma... Website accessed 2 March 2011.
- The Neurofibromatosis Association. Neurofibromatosis type 2. Information for Patients. http://www.nfauk.org/uploads/NF2%20Information%20for%20Patients.pdf Website accessed 2 March 2011.