According to a story from Newswise, the results of a phase 3 clinical trial suggest that the medication tafamidis could substantially reduce the risk of hospitalization or death for patients with rare transthyretin amyloid cardiomyopathy, a progressive type of heart disease that many researchers believe is underdiagnosed. If tafamidis gains approval for this indication, it would be the first therapy specifically designated for the treatment of this rare and deadly illness.
About Transthyretin Amyloid Cardiomyopathy
Transthyretin amyloid cardiomyopathy is a rare disease of the heart which is characterized by the buildup of mutated transthyretin protein in the organ. The amyloid fibrils that appear thanks to the mutated protein begin to enter the heart muscle and eventually leads to heart failure. This disease can appear in a familial form, in which mutations are inherited, or a “wild-type” form. It most commonly occurs in the 50s and 60s and people of African descent appear to be more susceptible. Transthyretin amyloid cardiomyopathy is considered to be substantially underdiagnosed, and it may take years for it to be discovered. Treatment for the disease is limited, and typical heart failure measures may be harmful; a combined heart and liver transplant is considered the only disease modifying procedure available. Life expectancy is three to five years from diagnosis on average. To learn more about transthyretin amyloid cardiomyopathy, click here.
Promising Results
In the phase 3 trial, the drug was able to reduce the risk of death for patients by 30 percent and reduce hospitalizations by 32 percent. Overall, it was found that tafamidis could slow the decline in quality of life that patients experience as the disease progresses.
It is not altogether surprising that tafamidis would be an effective approach for this disease, as it is commonly used to treat hereditary ATTR amyloidosis as well, another disease which involves changes to transthyretin and amyloid fibrils.
Diagnoses On The Rise
Recent advances in diagnostic practice for transthyretin amyloid cardiomyopathy have contributed to the belief that the disease is underdiagnosed; in the past, a biopsy was required to confirm the presence of the disease, but now it can be found with much less invasive imaging tests. Hopefully, the FDA will decide to certify tafamidis for the treatment of this poorly known rare heart disease.
