Driving new research in rare disease

The Neuro’s Clinical Research Unit brought more cutting-edge trials to McGill in 2023

As a leading Canadian centre in neurological research, the Clinical Research Unit (CRU) at The Neuro is always striving to make neurological and rare diseases treatable – and that means putting a special focus on conditions that have no available treatment options. In 2023, the CRU continued to be the only center in Quebec conducting a number of cutting-edge trials for rare conditions. Here is a look back at just a few of the highlights of the year.

Amyotrophic lateral sclerosis

Has ALS become more common? Are new treatments making it a manageable long-term condition? And how will AI and gene therapy help to create more targeted treatments? Dr. Angela Genge, director of the ALS Centre of Excellence at The Neuro spoke to CBC’s The Current about the latest developments in research and treatments. Learn more.


A new study is testing a molecule designed to block the messenger RNA (gene transcription) of amyloid precursor protein gene (APP), which produces the amyloid that abnormally accumulates in the brain in people with Alzheimer’s Disease. A new drug targeting individuals with mild cognitive impairment and mild dementia hopes to reduce the production of amyloid protein at the source, rather than waiting for it to build up before removing it. Learn more.

Muscular dystrophy 

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, mainly affecting the face, upper body and legs. The DUX4 gene turns on a specific pathway making it overactive, causing muscle cell death. The investigational drug being tested is specifically targeted to shut off the DUX4 gene so that the muscle can live. If this medication is shown to be effective, FSHD would be the first treatable adult-onset form of muscular dystrophy. Learn more.

Friedreich’s Ataxia 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 is between 40 and 50 years old. An observational study from the International Friedreich’s Ataxia Research Alliance (FARA) 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. Learn more.

Multiple sclerosis

MOGAD is rare and frequently misdiagnosed demyelinating disease affecting the optic nerve, spinal cord and brain; its most common symptoms are a loss of vision. When the myelin sheaths surrounding the nerves are damaged, nerve impulses may pass incompletely or not at all. An already approved medication for another demyelinating condition (NMOSD) is being tested to see if it can produce similar management of inflammation in MOGAD with fewer long-term side effects than the steroids currently used. Learn more.

Parkinson’s disease 

A new study from the Michael J. Fox Foundation is contributing to our understanding of Parkinson’s by identifying the earliest biomarkers of disease in patients who are newly diagnosed and those with important risk factors. Knowing which biomarkers can be used to test new treatments will help researchers develop clinical trials that will provide more accurate indications of effectiveness. The hope is to use these to target treatments to stop Parkinson’s early. Learn more.


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Ana May Scott
4 months ago

Very interesting topic for medicine and the integration of AI to the current care protocols. Would there be a timeline for the onset of such technologies and their benefits in the day-to-day treatment of patients with the disease in question ? AI and care is indeed a novel route for researchers and their assistants, in particular for diseases with a know genetic component, such as cancer (HER-2 gene), for example.