Patisiran for HATTR Amyloidosis: How a Patient Got Involved

According to a story from Nature, Dr. Carlos Heras-Palou was diagnosed with hATTR amyloidosis when he was just 39 years old. Initially, the devastating diagnosis was completely overwhelming, as the disease carries a survival time of around 15 years at best in most cases. However, instead of sinking into despair, Dr. Heras-Palou decided to get involved in research. In August 2018, the drug patisiran was officially approved by the US Food and Drug Administration (FDA) as a treatment for polyneuropathy associated with the disease. This is how Dr. Heras-Palou pitched in.

About HATTR Amyloidosis

HATTR Amyloidosis is a disease which is characterized by the build up amyloid fibrils in body tissue. Amyloid fibrils are a type of abnormal protein. The disease is caused by a heritable genetic mutation. Symptoms of the illness include swelling, heart failure, irregular heartbeat, shortness of breath, fatigue, weight loss, easy bruising and bleeding, stroke, lung problems, enlarged liver, and changes in skin color. Treatment approaches for hATTR amyloidosis includes liver transplant; This can actually cure the disease, but the procedure carries substantial risks and side effects. This form of amyloidosis has a better prognosis than some of the more common types with some patients surviving for over a decade. It is estimated to affect around 50,000 people worldwide. To learn more about hATTR amyloidosis, click here.

Finding An All-New Treatment

In 2004, nerve pain in his hands because of the disease was putting his career as a surgeon in jeopardy. Dr. Heras-Palou concluded that there were two methods that could theoretically treat the disease: developing a molecule to stabilize the TTR protein or shut down the gene that codes for it, therefore halting production of the errant protein.

The company Alnylam was created specifically for the development of RNA interference therapies. However, the company had yet to determine what manner of disease they wanted to treat. Dr. Heras-Palou paid a visit to Philip Hawkins, who directed the National Amyloidosis Centre, based in London, at that juncture. After this conversation, Hawkins was able to convince Alnylam that hATTR amyloidosis should be the target disease for their work.

Fast forward to 2013, when Dr. Heras-Palou’s younger sister Isabel was also diagnosed with the disease. She was offered a slot in the company’s phase 2 trial testing their latest drug prototype called ALN-TTR02, which would one day become patisiran. 

Dr. Heras-Palou himself would later get involved in the phase 3 trial, which confirmed the exceptional results of the treatment. New formulations are being developed that will allow patients to administer the drug less frequently. 15 years after his diagnosis, Dr. Heras-Palou continues to work as a surgeon and enjoys good quality of life.

“I feel fortunate to be one of the first people to benefit from this new class of drug.” – Dr. Carlos Heras-Palou

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