HSP Research Program update June 2017

Planning meeting (LtoR) Frank McKeown, Kishore Kumar, Carolyn Sue, Alan Mackay-Sim.

Focus on pre-clinical investigations

The planning, design, approval, recruitment, implementation and reporting of clinical trials all require significant input from a number of niche specialists in these areas, as well as in others such as pharmacodynamics / pharmacokinetics (how a drug affects the body and how the body affects a drug) and biomarkers.


Alan discussing HSP research at Royal North Shore Hospital, Sydney

Consulting support, design and planning

Since January, we completed a search and recruitment initiative for the services of a clinical trials consultant. We have received advice that a phase I trial to test the safety of the candidate drug in healthy people should not be needed by the regulatory authorities as there is a good safety record for the drug over a long period, even though its use has been for a different purpose to date. 
This is very welcome news as it represents significant savings of both time and money.


Design ideas and plans to calculate drug dosages for use in the trials have been produced by Prof. Alan Mackay-Sim working in conjunction with the consultant, and range from computer modelling studies to testing in mice.


Measuring treatment effectiveness

The biggest challenge in testing the effectiveness of a drug for HSP is measuring if progression of the condition has been slowed down or stopped, as it can remain unchanged for years at a time – way beyond the time frame for a cost-effective clinical trial. This is why a biomarker for HSP progression would be so valuable to have, and why its establishment is such a high priority.


Prof. Carolyn Sue has recently appointed Dr. Sue-Faye Siow* to investigate a brain imaging biomarker** for HSP employing a technology called DTI (diffusion tensor imaging) which is a type of MRI that quantifies important aspects of both the structure and function of brain white matter, including neuronal axons. There is also an HSP biomarker initiative in the early stages in Germany that is investigating the potential for levels of a particular protein in the urine to be an accurate and effective measure of HSP progression.


Gautam Wali and Alan Mackay-Sim after the seminar

Where to start?

Data now needs to be assembled on the feasibility and cost/benefit of conducting a small, ‘proof-of-concept in humans’ trial to gauge the effectiveness of the candidate drug on HSP in the absence of an established biomarker.


On the upside, if there is measurable improvement in symptoms/mobility of HSPers taking the drug, that would be a huge boost and support for a larger clinical trial. However, without significant improvement, the results would be inconclusive – did the drug not work or was it, in fact, effective in slowing or stopping HSP progression? Without a biomarker, we just would not know.


Ongoing work

Work is also continuing on legal, logistical and organisational aspects of clinical trials planning. Clinical trial team member Gautam Wali made a presentation in Germany at the well-regarded annual Tom Wahlig symposium, on the drug validation studies completed last December using induced pluripotent stem cells to create HSP neurons with long axons. The talk stimulated significant interest amongst the HSP researchers in attendance, with questions following the talk from some of the leading global players in HSP research.


*Dr. Sue-Faye Siow

Sue-Faye Siow

We welcome Sue-Faye to the clinical trials team. Sue-Faye is a neurologist who will be undertaking a Ph.D. study to investigate diffusion tensor imaging as a potential biomarker for HSP.


Here is an outline of the study:
**There needs to be a standardised biomarker to monitor disease severity in order to assess the effect of therapeutic drugs on the disease process. Motor evoked potentials (MEP) have been used to demonstrate damage to nerves in HSP. Diffusion tensor imaging (DTI) is a form of magnetic resonance imaging (MRI) which reveals damage to nerves affected in HSP which cannot be seen on conventional MRI. Previous studies have shown correlation between abnormal MEPs and DTI abnormalities with disease severity and duration.


However, these studies have not been performed over a period of time to demonstrate the expected changes in MEP and DTI measures over time in HSP patients who are not receiving treatment. This information is required to compare the MEP and DTI changes in HSP patients with and without treatment in order to show stability or a reduction in changes.


We will study MEP and DTI measures in a group of HSP patients without treatment to establish the expected changes. We will also investigate any possible correlation between the MEP and DTI findings.




  1. I would definitely like to be a part of this trial in any way. I live in the USA near Boston let me know if I can help in any way.

  2. I think there is a few of us out there just waiting to hear something so we can be in some way assisting in trials.

    1. Editor’s note: The short answer is ‘No’. Referencing the update, it is apparent that there are quite a few significant steps that need to be completed before trial participants will begin the drug treatment. Biggest amongst these appears to be how to measure and evaluate the effects of this, or any drug, on HSP, as current measures are not adequate. Discovery of a reliable biomarker for HSP progression/status will need to happen first.

  3. For so many years we have heard the research is going on and as soon as possible medicine will be discovered, but now till today nothing has been done. We still await the treatment for HSP but as yet there is no treatment to stop HSP disease and nobody knows how much more time we must live with HSP. We know you people do very hard work, we wish that treatment could be launched which will help patients and provide relief 🙁 🙁

  4. I would like to extend thanks for all the time and unselfish effort being put into this research and appreciate the updates on this site. Keeps us hopeful and positive!

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