A-T is considered an orphan disease because the pharmaceutical companies have not “adopted” it due to its rarity. Parent-driven associations worldwide have been instrumental in raising funds and engaging with scientists to develop new approaches to combat this disease.
Research into possible treatments for A-T may offer exciting implications beyond the relatively small A-T community. Advancements in the understanding of the ATM protein may provide insight into, and treatments for, other neuro-degenerative conditions such as Alzheimer’s, Parkinson’s disease and Multiple Sclerosis, as well as metabolic syndromes, cardiovascular disease, respiratory disease, cancer and immunodeficiency diseases such as AIDS.
BrAshA-T aims to support ground-breaking research around the world, and we are very fortunate to have two dedicated and highly talented A-T research teams in our home city of Brisbane, Australia who are working on a cure for A-T:
Professor Lavin has established an international reputation for his work on A-T and regularly meets with international researchers to share their findings and insights into A-T. Professor Lavin is working tirelessly towards repairing the genetic mutation that causes A-T using gene therapy. His success could have far reaching implications and see this science applied to all genetic disorders.
Click here for more information about the work being undertaken by Martin and his team.
It is hoped that his work will one day enable the cerebellum of A-T patients to be repaired using iPSC, reversing the neurodegeneration in A-T patients. Scientists in Japan have already applied this knowledge to successfully reversing macular degeneration.
Click here for an extract from the AIBN 2017 Annual Report describing the work undertaken by Ernst and his team.
Professor Lavin, Professor Wolvetang and other scientists engaged in A-T research regularly meet with the A-T children and their families during the clinics held throughout the year, updating them on their progress. This has resulted in a unique relationship between the researchers and the families, and a personal commitment, passion and urgency to find a cure in time to save these precious kids. BrAshA-T and our invaluable researchers strongly believe that it is not a matter of if, but when, we will find a cure.
BrAshA-T also supports international researchers in collaboration with other international charities fighting for a cure for A-T. We have partnered with US-based A-T Children’s Project (including the Global A-T Family Data Platform), as well as UK-based Action for A-T and A-T Society, to fund projects being undertaken both abroad and in Australia.
Current research projects we are either funding or co-funding, including:
Liver Disease and A-T - Dr Sarah Withey, AIBN of UQ. Click here for more information.
Lung Disease - Prof Martin Lavin and Abrey Yeo, UQCCR
Generation, Correction and Differentiation of AT-iPSC (A-T induced pluripotent stem cells) - Prof Ernst Wolvetang, AIBN
Oxidative Stress, Metabolite Insufficience and Mitochondrial Dysfunction – Prof Martin Lavin and Prof Dave Coman, UQCCR/Wesley Medical Research
The Use of Stem Cell-Derived Neurons for Understanding Development and Disease of the Cerebellum - Sam Nayler and Esther Becker, University of Oxford (UK). Click here for more information.
Longitudinal Brain Studies - Dr Rob Dineen, University of Nottingham (UK). Co-funded with Action for A-T. Click here for more information.
Blood Cancer Therapies - Prof Malcolm Taylor, University of Birmingham (UK). Co-funded with Action for A-T. Click here for more information.
Natural History of A-T - Dr William Whitehouse and Dr Emily Petley, University of Nottingham (UK) co-funded with Action for A-T and A-T Society. Click here for more information.
Global A-T Family Data Platform - led by A-T Children's Project, with Whole Genome Sequencing of Australian A-T patients funded by BrAshA-T. Click here for more information.
ASO Gene Therapy - Dr Timothy Wu, Harvard/Boston Children's Hospital, led by A-T Children's Project with contributions from BrAshA-T, Action for A-T and A-T Society. Click here for more information.
ATTeST International Clinical Trial - Dr Monique Ryan, Royal Children's Hospital Melbourne, funded by Erydel, with recruitment support from BrAshA-T. Click here for more information.
We are pleased that as at 30 November 2016, the FDA removed all of its concerns and provided the green light to proceed with the ATTeST trial. We now need approval from the Australian authorities but hopefully that should be a mere formality.
The trial will assess the efficacy and safety of dexamethasone sodium phosphate (the study drug), delivered via the patient’s own red blood cells (RBCs), in treating the neurological symptoms of (A-T).
Erydex has launched a website providing further information for interested families. The site also has a separate section aimed at children who might participate in the trial, with simple explanations about the trial and the procedures involved.
Read more about the trial at attest-trial.com.
Sam Nayler is one of our devoted A-T researchers who works with Professor Ernst Wolvetang and his team at the AIBN at the University of Queensland. You can listen to his recent (11 Nov 2016) interview on Stem Cell Research on Radio 4EB here:
Foundation ‘Razem Zdazymy’ (Poland)
Ataxia Telangiectasia Hispana (Spain)