Cerebellar ataxia research update International Ataxia Research Meeting Developments in Diagnosis Identifying potential targets Clinical researchtrials Recruitment to research studies Presentation ID: 1045674
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1. Dr Julie VallortigaraResearch OfficerCerebellar ataxia research update
2. International Ataxia Research Meeting Developments inDiagnosisIdentifying potential targetsClinical research/trialsRecruitment to research studiesPresentation
3. International ataxia research conferences2017 successful 4-day conference Organised by 3 charities>400 attended from 22 countriesPatient perspective on clinical trialsClinical trials design roundtable200 posters and numerous talksSupport from various sponsors
4. Advances in research and future prospectsNew technologies emerging being exploited for ataxiasGene therapy / Stem cell therapyMore animal/cell models available and drug targets identifiedMore trials and natural history studiesCompanies increased interest
5. Development in the diagnosis of the ataxias
6. Next generation sequencing (NGS) successful in identifying new genes:NGS used in Oxford Ataxia Specialist Clinic for screening for around 100 genes involved in the ataxiasNew technologies in diagnosisProf Andrea Nemeth reported a new genetic form of cerebellar ataxia: SCA44Optic Coherence Tomography (OCT) used as screening test in ARSACS:OCT used in London Ataxia Specialist Centre for screening test to decide whether to do the formal genetic test
7. Genomics England studyGlobal studies such as Genomics England needed to discover new “ataxia” genes and new mechanisms responsible for the development of the diseaseNational initiative to sequence 100,000 genomes in rare diseasesAtaxias are included: 337 families with hereditary ataxia (~540 participants/genomes)Pilot study completed – second phase startedThe study is bringing results, with 36,083 whole genomes sequenced!
8. 13 Centres across UK taking partScotland and NI have now joined the study Contact GP or neurologistSample collected locally Ataxia expert groupYou can find more information on their website: http://www.genomicsengland.co.uk/the-100000-genomes-project/www.genomicsengland.co.ukHow to take part
9. Development in identifying potential new treatments
10. Targeting SCA38 with fatty acidMutation in gene ELOVL5 involved in production of fatty acidsConsequently level of fatty acids is decreased in patients with SCA38Study testing supplementation in DHA (docosahexaenoic acid – a form of fatty acid) on symptoms and brain imaging DHA supplementation is a safe and effective treatment for SCA38, showing an improvement of clinical symptoms and cerebellar metabolism
11. Clinical studiesNatural history studiesBiomarkers and measures of ataxiaCreation of European networks
12. Multi-centre European project coordinated at the German Centre for neurodegenerative diseases in BonnCreate a database with brain-imaging scans, standardised clinical assessments and blood samples from the patients, and will carry out a natural history study to assess how the participants’ conditions progress over the yearsIn the UK the London Ataxia Centre is recruitingSCA3 natural history study
13. This information will be very helpful in designing clinical trials to assess treatmentsReported in our magazine edition 195 - Autumn 2016Information available on our website about taking part in research: https://www.ataxia.org.uk/news/for-people-with-cerebellar-ataxiaLondon Ataxia Centre is recruiting: If you have been diagnosed with SCA3 and are interested in taking part, please contact the researcher Hector Garcia at Hector.Garcia@uclh.nhs.ukSCA3 natural history study
14. CA Clinical studies recruiting participantsBalance and gait study in SCA6 and SPG7SheffieldSCA3 projectLondonARSACS study (London)
15. Assessing the ability of a technique called gait analysis to detect changes over time in the way people with ataxia walkPeople diagnosed with spinocerebellar ataxia type 6 (SCA-6) or an ataxia type called SPG7 and can walk for 10m unaidedWalk between 2 rows of sensors, which collect information on how you are walking (for a distance of 5m)Repeat the assessment at 12 months and 24 months Contacting Dr Alisdair McNeill (Senior Research Fellow) on a.mcneill@sheffield.ac.uk or phone 0114 243 4343Gait study in Sheffield Hospital
16. Genomics England project - UKARSACS study – LondonSCA3 ESMI study - LondonSCA6 and SPG7 gait study - Sheffield Ongoing studies recruiting participants
17. Breakout session by Sue Millman and Barry HuntAtaxia UK’s new research strategy
18. THANK YOU!www.ataxia.org.uk