$260,000 for Validating Therapeutic Drug Candidates for treating HSP (2014–2016)
Over financial years 2014/15 and 2015/16, $260,000 raised from the HSP community, together with a further $120,000 from our sister organisation in the USA, the SP Foundation, provided funding support for two studies aimed at validating the findings of the previous study where candidate drugs were identified. This validation is being attempted in an animal HSP model, specifically mice, and in a different human model from the nasal stem cells previously used, specifically differentiated corticospinal neurons, which is the cell type in humans where HSP impairment occurs and where a drug treatment will need to be applied.
The objective of the validation studies, apart from importantly confirming the earlier findings with human HSP nasal stem cells, is to enable a strong case to be made in an application to the Therapeutic Goods Administration for approval for clinical trials to test one or more candidate drugs as an effective treatment for HSP.
Validation studies were completed in December 2016 with affirming and encouraging results found with the candidate drugs in the neuron-like HSP stem cells, while for a combination of reasons, the mouse study results were inconclusive. With the results obtained, Prof Alan Mackay-Sim and the research team firmly agreed that it is now time to move on to clinical trials to test the treatment with HSPers.
$210,000 for Identifying Therapeutic Drug Candidates for treating HSP (2011-2013)
We raised over $200,000 to provide funding support for this important project in the quest to find a cure for HSP. Principal researcher Prof Alan Mackay-Sim said “The study concentrated on understanding how cells from HSPers and non-HSPers differed, in order to learn how the genetic mutations in the spastin gene lead to the disease. We found some key differences in HSPers’ cells that suggest how the nerves in the spinal cord are affected. We studied the effects of two drugs whose effects on microtubules are well known. This research showed that very, very low doses of the drugs could restore the microtubules in HSP cells to normal. We then identified several potential drugs of the same family, which have greater ability getting into the brain and spinal cord, as this is where they will need to finish up to be effective in treating HSP.
$100,000 for Stem Cell Pilot Study (2009 – 2010)
We set about raising $100,000 to fund a stem cell pilot study which we achieved successfully in 2007-8 through a fantastic effort of every one in the Australian HSP Community doing their bit. The Pilot Study wrapped up in mid-2010 with very promising results, having identified important cell functions impaired by HSP gene mutations.
$200,000 now needed for the next step in our Towards a Cure for HSP research program.
Success in the pilot study now paves the way for a new research project over the next two years. We need $100,000 per year to fund this research. The project aims to identify potential drugs to compensate for important cell functions impaired by the mutated genes that cause HSP.
$85,000 for Gene Testing (2007 – 2008)
Without any financial support from the government, the Foundation relies solely on fundraising to secure funds for research. Since inception in 2005, the Foundation has funded gene testing research to the tune of $85,000. This has resulted in a reliable, fast, affordable, nationally-available genetic testing service for the major HSP genes being established. The service enables neurologists, clinical geneticists, physicians and researchers to:
- Make positive diagnoses of HSP – currently they rely mainly on clinical exam of physical symptoms and the condition is not uncommonly mis-diagnosed
- Help with family planning choices for HSPers
- Undertake gene mapping towards preventing the disease in future generations, and
- Build a genetic information database for targeting future therapies to treat the disease.
Read more about the Gene Testing Service.