HAC and RQMO Supports New Research Through: Unfolding Transthyretin Amyloidosis: Akcea Canada Young Investigator Grants Program

HAC in partnership with Regroupement québécois des maladies orphelines (RQMO), has awarded two Unfolding Transthyretin Amyloidosis: Akcea Canada Young Investigator Grants, valued at $25,000.00 CAD for a total investment of $50,000. These grants were made possible thanks to Akcea Therapeutics Canada (now Ionis Pharmaceuticals, Inc.). The program was designed to provide financial support for trainees and early career (within the first 5 years) investigators who are studying transthyretin amyloidosis.

Transthyretin amyloidosis is a rare, progressive genetic disease that occurs when there is a build-up of abnormal (misfolded) transthyretin proteins in the body’s tissues and/or organs. Most commonly it affects the peripheral nerves, heart, intestinal tract, eyes, kidneys, central nervous system, thyroid and bone marrow. The progressive accumulation of amyloid deposits in these tissues and organs leads to sensory, motor and autonomic dysfunction often having debilitating effects on multiple aspects of a patient’s life.

About Hereditary (hATTR) and Wild-type (wtATTR) transthyretin amyloidosis

Hereditary (hATTR) and Wild-type (wtATTR) transthyretin amyloidosis are two conditions characterized by amyloid deposition of misfolded transthyretin protein into different viscera including nervous system, cardiac, and renal issues. hATTR is a rare condition with patients having a genetic predisposition to TTR misfolding leading to amyloidosis. The estimated prevalence of hATTR in Canada is around 0.5 to 1.5 per 1,000,000. wtATTR on the other hand is much more common, representing just over 1% of all patients with cardiomyopathy and 13% of those with heart failure with preserved ejection fraction.  Raised awareness given the potential for treatment of both conditions has led to increased estimated prevalence in recent years.

Learn More about the research:

Research Project 1:

“Clinical, Sonographic and Electrophysiologic Characteristics of Carpal Tunnel Syndrome in Hereditary and Wild-type Transthyretin Amyloidosis”

Awarded to: Dr. Shahin Khayambashi, University of Calgary, Neuromuscular Fellow in the Department of Clinical Neurosciences

“It is very powerful and exciting. Its one of the few conditions whereas we are learning more about it, we also have treatments for it. Its really exciting to be funded and be able to explore the disease further” – Dr. Khayambashi

Bilateral carpel tunnel syndrome (CTS) is a very common manifestation in patients with both Hereditary (hATTR) and Wild-type (wtATTR) Transthyretin Amyloidosis. This research hopes to better understand the clinical, electrophysiologic, and sonographic features of CTS that are specific to patients with TTR amyloidosis. Furthermore, it will investigate whether ultrasound of various peripheral nerves can be used as a screening tool for polyneuropathy associated with TTR amyloidosis, particularly in asymptomatic hATTR patients that otherwise would not be offered treatment.

In addition, many provinces currently require biopsy confirmation of amyloidosis before approval of tafamidis, a medication used to treat heart disease in TTR patients. Given its high diagnostic accuracy, a biopsy of the heart is often used as a biopsy site, but this is an invasive procedure with potential for serious adverse effects. This study will also investigate whether a biopsy during the CTS surgery could provide a more benign alternative to heart biopsy for confirmation of amyloidosis and approval for tafamidis.

“Being funded for this research is incredibly exciting”, said Dr. Khayambashi. “Increasing the number of people who can actually benefit from this exploration is so rewarding, and I’m really happy to be involved in this.”

All patients with a recent diagnosis of wtATTR based on cardiac pyrophosphate scan or those who are genetically confirmed hATTR followed by the University of Calgary Cardiac Amyloidosis Clinic that are referred to the South Health Campus EMG clinic or Alberta Neurologic Center for routine neurologic screening including NCS / EMG will be screened to participate in this study.

Research Project #2: 

Longitudinal evaluation of Corneal Confocal Microscopy in Transthyretin – Awarded to: Dr. Monica Alcantara, Neuomuscular Disorders, Department of Medicine, The Prosserman Family Neuromuscular Clinic, University Health Network/Toronto General Hospital

Dr. Alcantara’s interest in Hereditary (hATTR) and Wild-type (wtATTR) transthyretin amyloidosis comes from her home country of Brazil. There,  the Portuguese population has a very high incidence of amyloidosis – the mutation is very frequent there.  In Brazil, there are very few medications that will support the population who suffer.  Early diagnosis is very important. “As long as we can diagnose them early, the disease isn’t going to progress. “

Measures of Disease Progression

As small-fiber neuropathy significantly contributes to the burden of disease in hATTR, validated and reliable measure of disease progression are needed to evaluate the outlines of disease-modifying therapies.   In vivo corneal confocal microscopy (IVCCM) has become an important tool for the evaluation of small fiber neuropathy in diabetes Longitudinal evaluation of Corneal Confocal Microscopy in Transthyretin – Awarded to: Dr. Monica Alcantara, Neuomuscular Disorders, Department of Medicine, The Prosserman Family Neuromuscular Clinic, University Health Network/Toronto General Hospital

We look forward to continuing to provide updates on these exciting new research studies in the months to come.

 

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