New Program May Help Cut Time to Diagnosis for hATTR Patients

Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare and progressive disease characterized by amyloid fibril deposits throughout multiple organs and tissues. As there are a wide range of clinical presentations for the disease, it is often misdiagnosed; in fact; an accurate diagnosis can take up to 5 years.

However, Akcea and Ambry’s emerging hATTR Compass program, is working to cut this time to diagnosis by empowering individuals with accurate genetic information so that they can make more informed decisions about their health care.

Through Ambry’s genetic testing, which will be made available through hATTR Compass program, individuals will be able to find out if they carry any of the TTR gene mutations associated with the disease. Through a partnership with PWNHealth, confidential genetic counseling will also be provided. In order to ensure the protection of confidential patient information, genetic testing results will only be provided to patients and their health care providers.

“hATTR amyloidosis is an autosomal dominant condition with variable penetrance,” said Sarah Boyce, President of Akcea Therapeutics, in an exclusive interview with Rare Disease Report ^®. “If one parent has hATTR amyloidosis, there is a 50% chance their child will inherit the mutation. A highly sensitive genetic test is a reliable method for identifying individuals with this condition or those at risk of developing it.”

The program screens for up to 80 genes that cause hereditary polyneuropathies and up to 85 genes associated with hereditary cardiomyopathies, including hATTR amyloidosis. Individuals must reside in the United States or Canada, be 18 years and older, and either experience red flag symptoms of hATTR amyloidosis or be aware of a family history of hATTR amyloidosis, including polyneuropathies and cardiomyopathies to be eligible for hATTR Compass.

“Through genetic testing, patients, their families and their healthcare team can learn if they carry gene mutations known to be associated with hATTR amyloidosis,” added Boyce. “This information can provide a sense of relief from uncertainty and help patients or their families determine risk for developing the disease. It can also help speed up the path to diagnosis and guide patients and their healthcare provider towards available monitoring options as well as help patients make informed decisions about their care.

Using Ambry’s 3 genetic tests, patients enlisted in the program will be provided with precise, reliable results.

A single-gene test to detect mutations in the TTR gene can be used to confirm a suspected hATTR amyloidosis diagnosis, while an 85-gene panel targeting patients with cardiomyopathies, hATTR amyloidosis included, will comprise the CardioNext test, which will provide a comprehensive genetic assessment of patients with suspected cardiomyopathies. Lastly, the NeuropathySelect test will consist of an 80-gene panel targeting patients with hereditary neuropathies, including hATTR amyloidosis, will be used to provide a comprehensive genetic assessment of patients with suspected neuropathies.

Furthermore, the testing is user-friendly, according to Boyce. “It’s easy for health care professionals and patients to participate in the program: Health care professionals and patients can order a free hATTR Compass Program Kit online [and the kit] will be sent by mail,” she said. “Patients should work with their physicians to collect and submit their DNA samples for analysis at Ambry Genetics by mail. Physicians will receive results from the genetic test within 2 to 4 weeks to share with their patients. Genetic counselors are available before and after genetic testing to answer any questions about the genetic testing process and discuss results with healthcare professionals and patients.”

In addition, Backpack Health has partnered with Akcea in order to provide an additional resource for individuals and their families through a mobile and web-based app that helps patients keep track of their symptoms, procedures, diagnostic tests, and ongoing treatment for hATTR amyloidosis. The tool will be available at no-cost and make it easy for individuals and families to share important medical information with health care professionals while navigating the hATTR amyloidosis journey.

Currently, the hATTR Compass Program is currently available in the United States and Canada. Akcea provides financial support for this program; however, all tests and services are confidential and performed by independent third parties.