HSP Research Program Update September 2016

Progress report from the research team


Prof Alan Mackay-Sim reports on research work over the past 3 months:

This report is quite brief and there is quite a lot more detail of recent work and results that is not included here. For the protection of the intellectual property involved, that detail will not be available until the work is published in a scientific journal. However the most important point to address is the implications of the results and findings, and I am happy to share that with you here.

Yongjun Fan, Alan Mackay-Sim, Gautam Wali
Yongjun Fan, Alan Mackay-Sim, Gautam Wali

Induced pluripotent HSP stem cell study

The aim of this study is validation or otherwise of the findings of earlier work on nasally derived HSP stem cells in HSP corticospinal neurons – which is the exact same tissue as in the brain where impairment occurs with SPAST HSP and where any drug treatment needs to finish up to do its work.

The bottom line on this study is that the results with human HSP neurons (induced pluripotent stem cell study) are positive, confirming previous findings from the original studies on HSP stem cells derived from nasal tissue.


However the results also demonstrate the need for fine-tuning and optimising, and also the need to confirm the findings in more cell lines to ensure the validity and reliability of the results so far.


HSP mouse study

The aim of this study is validation or otherwise of the findings of earlier work on nasally derived HSP stem cells in the brain tissue of mice with SPAST HSP  –  using a live animal model as another approach to validation. The more types of validation that can be established, the stronger the case that can be made to regulatory authorities when applying to conduct clinical drug trials.

Results from the HSP mouse study indicate that more measurement and analysis is required to clarify the findings. That being said however, while the results are not yet sufficient, there is nothing to indicate negative findings or a lack of consistency with previous studies on the nasal HSP stem cells.


Looking ahead

The results of both studies now available indicate that further experimentation, data collection and analysis need to be done with a projection based on best estimates at this point of a further two months work. While the delay in having both these studies completed is not ideal, we are guided by good scientific practice in deciding to do further work based on the results obtained.

The good news is that funding the continuance of both studies for the next two months has been secured, with no requirement for the Foundation to meet any of the costs. The other good news is that there is sufficient reason in the results to date to press ahead with planning to make application to the regulatory authorities for conducting clinical drug trials for SPAST HSP.


  1. I am very grateful for all your work and efforts to find a cure! Courage and wishing you resilience for all setbacks! Great work!

  2. I think this is what we have all been waiting to hear,so Great news for all. Fantastic!
    We will be waiting results of the next trials. Thanks very much! Cheers.

    1. Editors note: There is no research anywhere studying SPG84 to the best of our knowledge. This is the case for about 80% of all forms of HSP because they are extremely rare and it is very difficult to get funding to research them.

  3. I have HSP-4 and as a special ed teacher, I want to find the cellular connection between Autism and Dyslexia and HSP in hopes to better support the classroom learning for these kids with Autism and Dyslexia, and to eventually find a way to cure these connected disabilities.

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