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Tracking Friedreich’s ataxia

People with this rare condition can help accelerate research by contributing to the detection of clear indicators of disease progression

Imagine being a teen and learning that you will be in a wheelchair by the time you are 30, and that you will come to depend completely on others for every aspect of your daily life. It is a difficult prognosis to face. That’s the unfortunate reality for many individuals who develop Friedreich’s ataxia, a rare neurodegenerative disease that mainly affects the nervous system and the heart.

Dr. Massimo Pandolfo

“It is a slowly progressive disease which usually starts in childhood and adolescence. The earlier it starts, the faster it progresses,’’ explains Massimo Pandolfo, MD, a neurologist who specializes in Friedreich’s ataxia (FA) and led the team that discovered the first gene related to the disease. “Eventually, individuals with FA won’t be able to control their legs or even their hands; their vision and hearing may become significantly impaired, and an important minority go on to develop serious heart conditions.’’

The disease causes a breakdown of nerve tissue in some parts of the brain and spinal cord leading to loss of control of body movements (ataxia), which worsens over time. Life expectancy varies between 40 and 50 years old. About 15,000 people worldwide live with Friedreich’s ataxia. A significant number are in Quebec and the Acadian regions of the Maritimes, due to so-called founder’s effect, which concentrates genetic conditions in areas that started with isolated populations.

Seeing clear changes

There is currently no treatment to stop or even slow the progression of the disease. Developing new therapies for FA, like many rare neurodegenerative diseases, has been limited by the lack of validated, sensitive indicators for disease progression.

The Neuro (Montreal Neurological Institute-Hospital) has joined forces with the international Friedreich’s ataxia Research Alliance (FARA). Their study called TRACK-FA aims to accelerate the discovery and approval of new treatments by improving our understanding of brain and spinal cord changes and identifying the best indicators.

“Assessing clinical improvement in a slowly progressing disease like this one is difficult; we tend to see changes more clearly in younger patients who can still walk. We would like to have clear indicators which show the effect of a treatment in a matter of months -- rather than years. In this regard, MRI scans are very promising,” continues Dr. Pandolfo, who is the principal investigator at The Neuro for the study.

Sharing their individual picture

Patients are important partners in research. The study gives individuals with FA an opportunity to contribute to the advance of research by sharing their own unique journey.

For this observational study, no medication is being tested. The study will involve three visits over five years. Testing will include neuroimaging of the spine and brain, as well as cognitive, mood and speech assessments, clinical tests, and collection of a blood sample. The testing in the study is painless and, other than the blood test, non-invasive.

All of these measures will allow this international team to determine which indicator (also known as a biomarker) is the most sensitive to show the disease progresses. The goal is to use the most promising biomarkers rapidly in clinical trials that use smaller sample sizes and shorter observational periods to help people living with FA have access to new therapies faster.

“There is really a big need for effective treatments. This study is important because it will teach us a lot more about the disease itself and how it affects different parts of the brain over time. And most importantly, it will enable us to have a very powerful way of assessing the effect of potential treatments in future clinical trials,” concludes Dr. Pandolfo.

The Neuro is the only site in Canada for this study and can accept participants from anywhere in North America (travel costs will be covered). This is also the first in a handful of studies on Friedreich’s ataxia that will be starting in the coming months at The Neuro.

To learn more contact info-cru.neuro [at] mcgill.ca or (514) 398-5500, or visit cru.mcgill.ca.

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The Neuro (Montreal Neurological Institute-Hospital)Ěýis a bilingual academic healthcare institution. We are aĚýMcGill research and teaching institute; delivering high-quality patient care, as part of the Neuroscience Mission of the Ď㽶ĘÓƵ Health Centre.ĚýWe areĚýproud to be a Killam Institution, supported by the Killam Trusts.

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