UK R esearch update International Ataxia Research Conference Developments in Diagnosis Identifying potential targets Clinical researchtrials Recruitment to research studies Presentation ID: 914924
Download Presentation The PPT/PDF document "Dr Julie Vallortigara Research officer ..." is the property of its rightful owner. Permission is granted to download and print the materials on this web site for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.
Slide1
Dr Julie
VallortigaraResearch officer - Ataxia UK
R
esearch
update
Slide2International Ataxia Research
Conference
Developments in
Diagnosis
Identifying potential targets
Clinical research/trialsRecruitment to research studies
Presentation
Slide3International ataxia research conference
2017 successful 4-day conference
Organised by 3 charities
>400 attended from 22 countries
Patient perspective on clinical trials
Clinical trials design roundtable
200 posters and numerous talks
Support from various
sponsors
Next one in 2019 in the USA!
‘Intimate and focused, conferences like IARC 2017— the International Ataxia Research Conference — are the type of scientific meeting that “all rare disease patient groups should try to do,” Warren Huff, the founder and chief executive officer of
Reata
pharmaceuticals’
Slide4Development in the diagnosis of the ataxias
Slide5Genomics England study
Global 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 – Oct 2016)Pilot study completed – second
phase startedThe study is bringing results, with 66,443 whole genomes sequenced!
Slide613 Centres across UK taking partScotland, NI and Wales have joined the study Contact GP or neurologistSample collected locally Ataxia expert groupThis is the last chance to take part!
You can find more information on their website: http://www.genomicsengland.co.uk/the-100000-genomes-project/
www.genomicsengland.co.uk
How to take part
Slide7Development in identifying potential new treatments
Slide8Targeting SCA38 with fatty acidResults of a recent study presented at IARC 2018 (Italy)Mutation in gene ELOVL5 involved in production of fatty acidsConsequently level of fatty acids is decreased in patients with SCA38
Study 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
Slide9Clinical research and trials –recruitment of participants
Slide10CA Clinical studies recruiting participantsARSACS study (London)Balance and gait study in SCA6 and SPG7
SheffieldSCA3 projectLondonEUROSCA (London)
Slide11Multi-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 years
In the UK the London Ataxia Centre is recruiting
SCA3 natural history study
Slide12This 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.uk
SCA3 natural history study
Slide13Assessing 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 4343
Gait study in Sheffield Hospital
Slide14Academic-led trials
Pharma trialsMany drug repurposing
Recent Clinical trials in
Friedreich’s
ataxia
Slide15FA Clinical studies recruiting participantsTrial in LondonTrial in BristolTracking progression in FA
to establish biomarkers LondonOxfordNewcastleEFACTS (London)LSVT speech therapy study
Slide16Omaveloxolone (RTA 408) trial - Reata
Nrf2 (transcription factor) activator with antioxidant propertiesTwo parts: Part 1 - dose escalation placebo (finished)Part 2 –ongoingResults of part 1 study (69 people in placebo
controlled
trial with two doses)
Helped show safety and define dose to use in part IIActivation of Nrf2 and mitochondrial function in cellsNot powered to see improvement in ataxia, but saw some benefits in modified FARS
Slide17Current status: London Ataxia Centre as trial site Part II ongoing as international trial
Ataxia UK is working with REATA
Recruiting now!
Inclusion criteria
People with FA 16-40 years of age
Ability to do a bicycle exercise test
5-7 visits
Information in Ataxia magazine last issue
Slide18Testing a drug which activates stem cells within the bone marrow and induce them to circulate around the body. circulation of the body’s own stem cells is a promising approach for therapeutic success
5-day course of treatment with a licenced drug called lenograstim Followed by 5 visits to the hospital for follow-up over 2weeks periodPilot trial: first time this drug is being tested for FAIf positive results, need to confirm with a larger study
FA trial in Bristol
Slide19Multi-site European study:
- London (and other European sites)- 750 participants (still recruiting)
- Data for baseline, year 1 and 2 published
- Data being used to design trials
Funded EU initially, now by patient
groups via Euroataxia and pharma partnersEFACTS- European FA Consortium
Slide20Thank you!
www.ataxia.org.uk