‘Towards a Cure for HSP’ research program update

Promising progress… and a long way to go


Dr. Yongjun Fan, Simon Weyers, Prof. Mackay-Sim and Gautam Wali
Dr. Yongjun Fan, Simon Weyers, Prof. Mackay-Sim and Gautam Wali

Prof Alan Mackay-Sim, co-Principal Investigator of the HSP research program, gave a progress report on the research projects underway.


He highlighted the difficulty of further accelerating the research with current funding and resources available.


The majority of funding comes from a National Health and Medical Research Council grant of just over half a million dollars over 3 years that is now in its last year. Combined with the support from this Foundation, it has been possible to increase the number of researchers dedicated to finding a cure for HSP from not quite one full-time equivalent to the current level of around 4 full-time equivalent researchers.


This has had an enormous impact on the scope of research possible and the progress made to the point we are today of examining 2 potential drugs that are promising candidates for a clinical trial. However, realistically, what it will take to satisfy the Therapeutic Goods Administration (TGA), Australia’s regulatory agency for medical drugs and devices, to approve a clinical trial is still some way off. Here is a report on the work currently underway with that goal in mind:


Dr. Ratneswary Sutharsan & Prof. Mackay-Sim

Peroxisome Movement

Gautam Wali is partnering with Dr. Ratneswary Sutharsan, who manages the stem cell bank and also has special expertise in statistics, in analysing data on peroxisome movement on microtubules in HSP stem cells. They are studying multiple characteristics of the movement of peroxisomes in great depth with the aim of specifying the particular part of the mechanism and process that is affected in HSP cells. This is necessary as part of the requirement to know exactly how the drug candidates are acting on the impaired peroxisome function.


Spastin Function

Simon Weyers is introducing DNA into HSP stem cells, aimed at getting them to make the spastin protein that they are lacking and observe the effects on other proteins in the causal chain. This study is seeking to confirm that the SPG4 gene mutation is indeed causing the effects and impairments observed in the cells. By elevating spastin levels, it is hypothesised that this will lead back to normal microtubule formation and peroxisome movement. He will then do the opposite in unaffected stem cells, attempting to induce the impairments expected from HSP by artificially decreasing spastin levels, which is predicted to cause HSP-like changes in cell functions. This has the potential to unambiguously confirm how the genetic mutation is responsible for the bundle of effects and impairments observed in the stem cells that are characteristic of HSP.


Johanna Fernandes
Johanna Fernandes

Lysosome Function

Undergraduate Honours student, Johanna Fernandes, is continuing her investigation into lysosome function/impairment with HSP, which has now grown into a separate project in its own right.


Developing Neuron-like Cells

Dr. Yongjun Fan is continuing his work on differentiating neuron-like HSP cells from nasal HSP stem cells. This is proving to be both slow and difficult, but necessary in order to test the findings of other research work to date to see if the same results can be achieved in the long arm (axon) of neurons (nerve cells) as have been found in stem cells. Drugs to cure HSP will need to reach and function effectively in the upper motor neurons in the brain.


HSP mouse project

This project has now been initiated with application for ethics approval. Also the importation process for HSP mice breeding pairs in collaboration with the University of Sheffield in England is underway. More details on this project will be provided as the planning unfolds.


Planning & Project Funding


Foundation President Frank McKeown & Prof Mackay-Sim
Foundation President Frank McKeown & Prof Mackay-Sim meeting in February 2014

Foundation President, Frank McKeown, met with Prof Mackay-Sim at the National Centre for Adult Stem Cell Research on the Brisbane campus of  Griffith University in mid-February to discuss plans for HSP research in the Towards a Cure program in 2014 and beyond.


Frank commented “Continuing success in testing the promising drug candidates under review could result in an application to conduct clinical trials on HSPers as early as sometime in 2015. It’s hard to imagine that we have come so far, so quickly, with relatively so few resources… and now we are thinking ahead to testing potential drug cures on HSPers. That’s the good news. What isn’t so good is that we had a significant shortfall in our 2013 fundraising target and I fear that if the reduced fund raising trend continues in 2014, it will at the very least slow the pace of research, and even possibly lead to important projects being shelved for now…  pushing the whole time frame out significantly. That would be a real shame for people everywhere who are waiting for a cure that they desperately want and need.”


  1. A possible cure for HSP would be fantastic. For my sake and many others with HSP I hope to hear so great news in the not so distant future. Keep up the great work.

  2. My heart is overjoyed right now. Tears are rolling down my face and all I can do is praise my God for each of you and the time you have given in the search for the cure for HSP. It has been so long and so many have been affected by this terrible disease. I pray that God will bless the continued research on this and the ones doing the research. I can’t wait to get more updates on how the progress is going. Dr. John Fink at the Univ. of Michigan in the USA is my doctor that is also researching this disease. I want to thank each of you for your dedication to find a cure. It means so much to me and my family.

  3. Exciting developments! Can you guys make a national plea if research funding gets too low? A cure in my lifetime would be wonderful, I could weep! 😀 😀 😛 😀 😀

  4. Am thankful for any/all work on HSP! Little seems to be known or done with it. I am simply told by every Neurologist that I see that there is no treatment or cure & no interest in dealing with it for me. I want to do anything that I can to participate in whatever way that I can in research testing/treatment. Thank you for your work.

    1. Editor’s Note: what the neurologists are really saying to you is that there is no treatment that they can offer. But there is a lot that can be done in managing the symptoms of HSP while we all wait patiently for an effective treatment to be available. As well as medication options for managing spasticity or incontinence, many HSPers can benefit a lot from a daily self-managed program individually designed by a neurological physical therapist (physiotherapist) http://www.hspersunite.org.au/neurophysiotherapy-a-good-investment/. This involves dedication and hard work, but is a great investment in maintaining mobility and quality of life for many with HSP.

  5. I am a French Quebecer in Canada, my mother and two sisters were suffering from HSP. I and my cousins and others will follow. In Quebec there is little information about HSP. I am glad to know your site and progress of your research in Australia. I’ll make the greatest possible effort to give a donation to this research.

  6. My 15 year old niece from the uk is just diagnosed with hsp /spg15 very rare – from what we’re reading were hoping that cures for ms and similar degenerative conditions are just around the corner then other rare conditions such as spg15 can ride piggy back with similar means to cures. We must all continue raising awareness of all these ailments and continue obtaining findings to help in the fight
    Anyone know of any research or trials globally 🙄 🙄 🙄 🙄 currently into spg15?

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