Watch all presentations from our recent Patient and Families Information Forum
Introduction + Associate Professor Ian Harding
Professor Ian Harding has recently relocated his laboratory to the QIMR Berghofer Institute from Monash University. In Brisbane he is continuing his work in understanding brain & spinal cord changes in FA.
Central to his work to date is that these changes can be measured using imaging and reveals that the changes occur not only in 'primary' areas of the disease, but also impact brain connections & communication. Professor Harding's talk further explores the current and possible future applications of imaging and its importance for potential treatment targeting & monitoring.
In the University of Wollongong's Dottori Laboratory, Professor Mirella Dottori and her team focus on Stem Cell Research.
Working specifically with the creation of Induced Pluripotent Stem Cells, the lab seeks to address concurrently the 'Why?' of Friedreich Ataxia as well as the 'How?' to fix it!
Using these 'artificial' cells enables the study of genetic diversity as well as work on genetic modification of cells and importantly the ability to share them across the globe to support numerous other research studies on FA. "Our role is set up the appropriate platform so that we can fast track all of this!'
Associate Professor John O’Sullivan
Associate Professor John O'Sullivan returns to the origins of the Brisbane Ataxia Clinic based at the UQ Centre for Clinical Research detailing its humble beginnings and growth to a team including an occupational therapist, speech pathologist, neurologists, coordinating nurse and other allied health professionals.
Professor O'Sullivan also gives his personal and professional reflections on Clinician / Patient interaction and notes the research and trials the Clinic has participated in.
Biogen - Monique Bueno Alves + Lucas Tocchini
Our Patient Forum proudly hosted Biogen Pharmaceuticals' Monique Alves (Medical Affairs Director) and Lucas Tocchini (Head of Market Access).
Monique described Biogen's history and credentials in therapeutic advancement as well as explaining the time to navigate the path of drug development from Bench to Daily Life.
Lucas then gave an overview of how the Australian process for Access to a Medicine works detailing three broad stages: TGA Registration, Health Technology Assessment and Listing for PBS Reimbursement (Government funding).
Presenting on Friedreich Ataxia Clinical Trials, Professor Martin Delatycki of the Murdoch Children's Research Institute detailed the progress and outcomes of two specific Australian studies.
The natural compound Resveratrol has been considered a potential Friedreich Ataxia treatment in part as it had proven to increase Frataxin levels. Professor Delatycki presents the methodology and results of this trial along with those of a study comparing the efficacy a 30-week intensive physiotherapy & exercise program on patients compared to a control group undergoing standard care.
He further updated the group on a forthcoming trial for MetroBiotech's MIB-626, with the Phase 1 Study currently before the Ethics Committee as well as the work of the Australian FA Stem Cell & Gene Therapy Consortium.
At fara Australia, we work very closely with Dr Liz Soragni, the FARA US Director of Research.
Joining our Patient Forum by Zoom, Dr Soragni discusses the FA Treatment Pipeline initially using the analogy of having multiple shots at goal to Slow, Stop, Reverse then ultimately cure FA. We know not all shots will be on target, but SKYCLARYS represents our first score.
Updates are given on progress across a number of potential therapies spanning Mitochondrial & Frataxin functions as well as Gene Therapies.
Working in the Dottori Laboratory at the University of Wollongong, Amy Hulme's research is co-funded by fara Australia made possible through the generosity of our community.
Humans detect sensations such as movement, spatial position, muscle pressure, touch and vibration through a particular type of nerve in the spinal cord - sensory neurons, or specifically Proprioceptors and Low threshold mechanoreceptors. Unfortunately, these sensory neurons are significantly impacted by FA.
Dr Hulme is investigating the impact of this using FA effected sensory neurons created in a dish in the laboratory. The importance of this capability includes testing potential drug screening and frataxin delivery mechanisms. We also learn how FA impacted sensory neurons can detect and send messages (work effectively) in response to mechanical stimuli.
Ruch Sarwade PhD from Monash University explores what plants can teach us about Friedreich Ataxia. In her soon to be published work Dr Sarwade details the similarities between the effect of the GAA repeat in Friedreich Ataxia and a plant growth defect caused due to triplet repeat expansion. This work was proudly co-funded by fara Australia through the generosity of our community.
Professor Nellie Georgiou-Karistianis
Professor Nellie Georgiou-Karistianis is the Coordinating Principal Investigator on the ground-breaking TRACK-FA Study and discusses the program's objectives and progress to date.
TRACK-FA is the world largest multi-modal study of FA spanning seven locations on four continents. With a cohort of 169 participants with FA and 95 matched healthy controls having completed Baseline assessment, Professor Georgiou-Karistianis reveals the first study results.
We also hear of the industry stakeholders supporting the study and how TRACK-FA will enhance our understanding of FA's progression and speed up therapy clinical trials and drug discovery.
Associate Professor Louise Corben
Associate Professor Louise Corben shares significant insights into the evolution and future of natural history studies and outcome measures and the critical part they play in clinical trials. This has been most evident to date in the FDA approval of Omaveloxolone/Skyclarys.
This talk explains the journey towards the introduction of Ataxia Instrumented Measurement as well as progress made on assessment of children with FA and the challenges this presents.
Associate Professor Corben also details the extraordinary global collaborations taking place in this sphere and the leading role Australian clinicians and researchers are playing.