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Patients help make sure research into rare neurodegenerative disease is effective
A partnership between UCL/UCLH clinicians, patients, and a specialist charity has paved the way for a holistic approach to neurodegenerative disease that has helped make UCL/UCLH a centre for research into the group of diseases called ataxia.
Close working with patients has enabled clinical researchers to design more effective research studies and recruit large numbers of patients to participants into trials of treatments.
Ataxia is a group of neurodegenerative conditions caused by brain damage as a result of disease or faulty genes. More than 100 different disorders can lead to ataxia, which in many cases is progressive and as yet incurable.
People affected by ataxia lose their physical coordination and balance, and often develop tremor, uncontrollable muscle spasms, as well as vision and speech defects. Some forms of ataxia also affect the heart and increase the likelihood of other serious complications, such as diabetes, blindness, and curvature of the spine. Progressive Ataxia affects an estimated 10,000 adults plus an unknown number of children.
Gold standard of care
The UCLH National Hospital for Neurology and Neurosurgery is one of the few specialist centres in the UK for the treatment of patients with ataxia. The ataxia clinic, which was set up with seed funding from the patient support organisation Ataxia UK and was the first ataxia centre in the UK to be accredited by Ataxia UK, provides a coordinated service which includes diagnosis, genetic counselling, treatment, support, and research.
Consultant neurologist and
researcher Dr Paola Giunti pioneered the holistic approach. The success of this approach is largely due to close working with Ataxia UK and the involvement of patients and people affected by ataxia in the development of the service.
A centre for translational research
Ataxia UK has also supported the development of research at the hospital and many of the patients who helped advise on service development were also very interested in research.
The UCL clinic receives numerous referrals from across the UK, which has enabled Dr Giunti to build up a large number of patients and a rich source of data on the condition. Having large cohorts of people with different types of ataxias has also enabled participation in trials.
But importantly, patients at the clinic and Ataxia UK have been consulted and involved at all stages in the development of research, from helping develop protocols and design of the trials, through to writing patient information leaflets to make sure information is relevant, understandable by all and appropriate.
Nigel Kilvington was one of the patients who helped design protocols and patient information for the PROTI study – input generally thought to have secured ethics approval for the study. “In one trial they wanted to look at the impact of a drug after a couple of weeks. I said you need to see more and look at it after two months.”
Dr Giunti has been involved in a double blind placebo controlled multi-centre European trial sponsored by a pharmaceutical company testing a medication in Friedreich’s ataxia. She explains: “During this trial we not only recorded the required information but we also recorded the patients’ experiences. At the end of the trial the information provided by patients was instrumental in the design of a sub-study within an extension phase.”
“I have been able to contribute to spinocerebellar ataxia research. That’s even rarer, but in a large pan-European study I was able to collect a fifth of all patients collected with these conditions.” she says proudly.
Dr. Giunti, working closely with Prof. B. Day and researchers at UCL, has also been involved in a study aimed at understanding balance disruptions in ataxia patients. The data generated from this project, supported by Ataxia UK, was used to design a pilot trial testing a physiotherapy intervention in a small group of spinocerebellar ataxia patients.
Patients played a key role in helping design the trial. Patients attending focus group meetings made some important recommendations, such as shorter testing periods to avoid fatigue and testing at people’s homes.
‘I believe strongly on the importance of working in partnership with patients and patient support groups such as Ataxia UK. This has helped in the development of an Ataxia Centre that is valued by patients for the care they receive and is at the forefront of translational research at an international level,’ Says Dr Giunti.
Ataxia clinic that takes holistic approach
Patients and Ataxia UK were crucial to the approach the ataxia clinic takes. When the
service was first set up, patient
feedback resulted in the availability of a volunteer from Ataxia UK with
direct experience of the condition at every clinic to provide practical
advice and a listening ear.
“Dr Giunti thought it would be useful to have an Ataxia UK representative in the clinics. So we tried it out and patients really appreciated it,” recalls Dr Julie Greenfield, research projects manager at Ataxia UK. “Someone there who has personal experience of the condition is very valuable, because [patients] have often not met anyone else with ataxia before."
Each volunteer is carefully selected to make sure they are good listeners and able to maintain confidentiality and then given training. If a volunteer is a patient, they have to be in the early stages of ataxia, so that they can write and speak clearly, she explains.
Ann Chapman, for instance, decided to become a volunteer after her son died from Ataxia at the age of 38. “It helps people to bring someone to their appointment –someone like a volunteer who knows what they are going through. Often there is so much information that people want to make sure they have heard things right.”
Dr Paola Giunti is the Patient and Public Involvement lead for the neurodegeneration theme of the UCLH/UCL National Institute for Health Research Biomedical Research Centre. The neurodegeneration theme is led by Professor John Collinge. Dr Giunti is Principal Clinical Research Associate and Honorary Consultant at the Department of Molecular Neuroscience, UCL.