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

TTR Amyloidosis Canada, 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 conditions 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 lead to increased estimated prevalence in recent years.

Learn More about The Research:

“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 where as 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.

We look forward to continuing to provide updates on this exciting new research study, which will launch in early 2022.

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