Research, Appendix & References
Recent progress
There have been a number of advances in the last few years in the identification of new genes causing specific ataxias, largely due to recent developments in gene sequencing technologies. Worldwide research using next generation sequencing and whole exome/genome sequencing has led to the identification of many new forms of ataxia and these developments are beginning to be translated into clinical services available to patients34.
Research is also progressing in understanding the basic biological mechanisms underlying the ataxias and many therapeutic targets have now been identified. This has then lead to pre-clinical studies of potential disease-modifying drugs in animal and cell models, and encouragingly a number of clinical trials in people with ataxia are ongoing.
A summary of recent published trials is found below (Table 14). This is included to illustrate that a number of types of drug trials have taken place. There are also many more trials in the pipeline, either to confirm the results of pilot studies listed or exploring new potential treatments (see www.clinicaltrials.gov). Although there are as yet no approved treatments for the majority of progressive ataxias, it is hopeful that due to this increased activity approved treatments will become available soon.
Table 14: List of recent published trials in ataxia
Medication | Type of ataxia | Type of drug/mode of action |
Idebenone279–286 | Friedreich’s ataxia | Antioxidant |
CoQ10/Vitamin E287, 288 | Friedreich’s ataxia | Antioxidant |
Carnitine/creatine289 | Friedreich’s ataxia | Antioxidant |
Deferiprone290 | Friedreich’s ataxia | Iron chelator |
Deferiprine and idebenone291 | Friedreich’s ataxia | Iron chelator & antioxidant |
Triple therapy Idebenone, deferiprone and riboflavin292 | Friedreich’s ataxia | Iron chelator & antioxidants |
EPO293–295 | Friedreich’s ataxia | Increases frataxin |
Carbamylated EPO296 | Friedreich’s ataxia | Increases frataxin |
A0001297 | Friedreich’s ataxia | Antioxidant |
Nicotinamide298 | Friedreich’s ataxia | Increases frataxin |
RG2833299 | Friedreich’s ataxia | Increases frataxin |
Interferon gamma300,301 | Friedreich’s ataxia | Increases frataxin |
Resveratrol302 | Friedreich’s ataxia | Antioxidant |
Riluzole303,304 | Mixed ataxias | Drug repurposing/unknown mechanism |
Lithium305,306 | SCA2, SCA3</td | Drug repurposing/ reduces protein aggregates |
Varenicline307–313 | SCA3, SCA14, Friedreich’s ataxia, Fragile X tremor/ataxia | Drug repurposing/unknown mechanism |
Memantine314, 315 | Fragile X tremor/ataxia | Drug repurposing/unknown mechanism |
Research has also focused on the development of tools to measure the severity and progression of ataxia for use in trials such as validated ataxia-specific rating scales (detailed in Table 15, below).
Table 15: Ataxia rating scales
International cooperative ataxia rating scale (ICARS)316 | All ataxias |
Scale for the Assessment and Rating of Ataxia (SARA)148,317 | Spinocerebellar ataxias/Friedreich’s ataxia |
Friedreich’s ataxia rating scale (FARS)318 | Friedreich’s ataxia |
Friedreich’s ataxia impact scale (FAIS)319 | Friedreich’s ataxia |
Inventory of non-ataxia signs (INAS)320 | Progressive ataxia disorders |
Databases and natural history data is being collected by networks of researchers worldwide and this has been of immense use in the design and implementation of clinical trials317,321. Due to all these encouraging developments, and the incentives provided in legislation on research in rare disease generally, pharmaceutical and biotech companies are now engaging more in ataxia research and indeed many research trials are being run by pharmaceutical companies, often in collaboration with university researchers and patient groups, such as Ataxia UK.
Participating in research studies
It is good clinical practice to offer patients the opportunity to take part in research projects. For information on research studies recruiting participants in the UK contact Ataxia UK, the ataxia charity who supports people with ataxia and works towards developing treatments for the ataxias.
Ataxia UK
For more information on ataxia research contact Ataxia UK, which provides up-to-date information for patients and healthcare professionals on developments in the ataxia field, including opportunities for patients to take part in research. Healthcare professionals are encouraged to join Ataxia UK’s Medical Registry and/or Researcher’s Registry and receive regular electronic newsletters with information on any trials recruiting participants. Information on ataxia conferences and ataxia training days is also provided.
Ataxia UK also provides funding for research projects and facilitates research (eg: by organising ataxia conferences/meetings, helping to recruit participants in research projects and advising on the research landscape) and is willing to work in partnership with interested parties from academia, industry, patient groups and other stakeholders (contact research@ataxia.org.uk).
A list of neurologists at Ataxia UK Accredited Specialist Ataxia Centres and other Centres of expertise*. The following are adult neurologists (and clinical geneticists where indicated).
Specialist Ataxia Centres
Prof Marios Hadjivassilliou
Ataxia UK Accredited Ataxia Centre, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust
Glossop Road, Sheffield S10 2JF
Prof Paola Giunti
Ataxia UK Accredited Adult Ataxia Centre, National Hospital for Neurology and Neurosurgery
Queen Square, London WC1N 3BG
Dr Santosh Mordekar
Ataxia UK Accredited Paediatric Ataxia Centre, Sheffield Children's Hospital NHS foundation Trust,
Sheffield, S10 5DD
Other Adult Centres
Dr George Tofaris & Prof Andrea Nemeth Dr Richard Davenport Dr Rajith de Silva Dr John Ealing Dr Michael Bonello Dr Simon Hammans Prof Henry Houlden |
Dr Paul Hart Dr John McKinley & Dr Seamus Kearney Dr Neil Robertson & Dr Mark Wardle Dr Alastair Wilkins Professor Nicholas Wood Dr Paul Worth Prof Rita Horvath |
Other Paediatric Centres
Prof Andrea Nemeth (Clinical geneticist, see details above)
*Please note that this is a list of specialists known to Ataxia UK and to the Guideline Development Group and is not an exhaustive list. We would welcome contact from other neurologists with expertise in ataxia (email: research@ataxia.org.uk)
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This information is taken from Management of the ataxias - towards best clinical practice third edition, July 2016. This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia. To view the full document, including references, click here.
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