Videos of 6 great sessions
The SP Foundation in the USA held its Annual Conference in Chicago at the end of June. Here are brief summaries of the 6 sessions with links to the video presentations.
Dr. John Fink opened by saying that after 25 years there is a lot more knowledge about the SPs but no treatment. The generic picture is becoming increasingly clear and more complex. For example, a PLS mutation is also the most common ALS mutation. SPG7 HSP can be inherited dominantly or recessively and cause major or minor HSP, but also PLS.
The challenge is to develop treatment strategies that do not depend entirely on understanding precisely how individual gene mutations cause dysfunction in a particular group of nerves. We need to increase knowledge and understanding of the molecular pathophysiology but also work on therapeutics at the same time, coming at the problem from both sides.
Dr Fink is also working on a developing a natural history of HSP and PLS. This is a scientific compendium of the range of HSP symptoms – how and when they start, how they show up, what effects they have, how they progress and so on. Having a quality natural history of the disease is fundamental to the process of testing treatments in clinical trials as it constitutes a benchmark against which to assess improvements. There is an emerging concept about how functional worsening seems to slow down with time. How and why is not known. ALS progression doesn’t slow down. Understanding how and why is essential for clinical trials.
Another project is the development of an exercise video. It will address differing degrees of tightness, weakness, balance and speed.
Dr. Kirsten Tulchin-Francis Ph.D. Spoke about measuring function in children with HSP. Her work is about 85% research and 15% clinical. She spoke about quantifying walking, including measuring force of the ankle and hip, the gait cycle using kinematics and graphic depictions, and oxygen levels in a 6 min timed walking test where greater oxygen use implies more difficulty with walking.
There are implications of quantifying walking for various reasons including the potential value of measuring improvement with treatment; as an important part of describing the ‘natural history’ of HSP; and the potential role in clinical trials. There is also the potential to gather a lot of data in real-time through the use of wearable tracking devices such as 3-D accelerometers.
Dr. Tulchin-Francis said that the goal is to one day link genetic testing with gait data. In response to a question about the usefulness of surgery for HSP, she commented that results are all over the place.
Lori Renna Linton is a U.S.-born school teacher who has HSP and who now lives with her family in Austria. The idea of Potato Pants as a synonym for HSP came about during a hike Lori took with her daughter.
Potato Pants holds enormous potential for raising awareness of the spastic paraplegias and similar diseases, but it needs to be promoted, publicised and marketed well for it to gain traction. It lends itself to pretty much any publicity for the condition.
Potato Pants initiatives have been undertaken on 3 continents – the UK, Europe and the US with significant success both in raising awareness and funds. Watch the session…
Dr. Teepu Siddique spoke about the way forward for HSP’s close cousin Primary Lateral Sclerosis (PLS).
Dr. Siddique of Northwestern University in Chicago has been working with children with PLS. He estimates around 1,000 people with PLS in the US and would very much like a registry of them all. There are currently 379 on the register as SPG11 HSP, but close to 200 are actually PLS. SPG7 HSP might also be PLS in some cases. More women than men have PLS.
Crispr gene editing technology is discussed, as is the relationship of both genetic and environmental factors in causing disease onset.
Dr. Sabrina Paganoni of Harvard Medical School talked about the role of multimodal neuro-imaging in diagnosis as well as assessment of neurodegenerative conditions, with a particular focus on PLS. Researchers are looking for a way to test for PLS.
There are 3 clinical drug trials for ALS underway that are using neuro-imaging technology, both MRI (Magnetic Resonance Imaging) and PET (Positron Emission Tomography) scans. PET scans check for brain function, not just brain structure and use a radio tracer with a very short half life.
The Q&A session included questions on scanning to test for HSP and measures of drug effectiveness.
Dr. Corey Braastad, a committee member of the SP Foundation, who works at Athena Diagnostics where they do gene testing for many genetic diseases including HSP spoke about an emerging technology called Crispr. He described it as a research tool and a therapy tool in cancer treatment.
Using a virus for delivery, the technology performs an editing function on the DNA in genes. The challenge for something like HSP would be how do you edit mutated genes in the motor neurons of the nerves.