Worried About hATTR Amyloidosis? Check Out This New Genetic Testing Program

According to Globe Newswire, a pharmaceutical company, Akcea Therapeutics, recently announced their new genetic testing and counseling treatment program for those who may have hereditary ATTR amyloidosis (hATTR amyloidosis). The program, named hATTR Compass™, is confidential and of no cost to the patient.

hATTR amyloidosis is a subtype of amyloidosis, but more specifically it is an inherited genetic disease which affects the nervous system and the heart. A genetic mutation causes hATTR amyloidosis and causes a protein to be formed into an abnormal shape. These abnormal proteins have the ability to build up in the body’s nerves and organs and ultimately lead to complications. There are three different categories of hATTR amyloidosis and symptoms vary but most symptoms are related to the heart and nervous system. The condition also affects the digestive system and the kidneys. There are no treatments for hATTR amyloidosis, only targeted symptom management treatments and therapies. To read more about the condition, click here.

The newly approved hATTR Compass therapy program aims to allow people to make more educated decisions about healthcare by empowering them to learn more about their possible risks. Through the genetic testing in this program, people will be able to know if they have the TTR gene mutations that are related to hATTR amyloidosis.

After that, there is even more confidential counseling that is provided through the program. The counseling is done in partnership with PWNHealth, an online healthcare company that allows people to access their confidential diagnostic testing, treatment, and professional guidance.

The company holds the utmost confidentiality with these records, and only allows patients and their physicians to access the information.

President of Ackea Therapeutics Sarah Boyce outlines the benefits of this latest pharmaceutical development: “Akcea is proud to bring this empowering service to people who may suspect that they have hATTR amyloidosis and their families at no-cost. We have developed a program that quickly and conveniently provides those people and their healthcare professionals with thorough genetic results to help with diagnosis and treatment decisions.”

“Under this program, people will receive rapid genetic test results and supportive, confidential, genetic counseling to help interpret genetic test results and what those results mean for themselves and their family,” said Boyce.

The program is capable for screening a maximum of 80 different genes that trigger or lead to hereditary polyneuropathies and an additional 85 genes that are related to hereditary cardiomyopathies. Among these cardiomyopathies is hATTR amyloidosis.

In order to qualify for the hATTR Compass program, one needs to be either in the United States or Canada and at least 18 years of age. Additionally, those interested must be noticing red flag signs of hATTR amyloidosis or know of family history with the condition. This family history can include cardiomyopathies and polyneuropathies.

This latest therapeutic development is actually going to be a big deal for the community impacted by it. As of now, it is difficult to diagnose hATTR amyloidosis, and the diagnosis itself can take years to confirm. The hope is that the new program will allow people to expedite the process of diagnosis and therefore get the support and resources they need quicker.

Early diagnosis for this condition, like most, is crucial.

CEO of the Amyloidosis Research Consortium, Isabelle Lousada explains, “It is critical that hATTR amyloidosis patients are diagnosed early in the course of their disease. Access to genetic testing combined with well supported counselling services is vital for symptomatic patients to get an accurate diagnosis, and is an important first step toward getting the care they need.”

One more addition to the development is Ackea’s partnership with Backpack Health, a mobile application that helps individuals track their diagnostic tests, ongoing treatments, procedures and symptoms of hATTR amyloidosis. The application is also of no cost to those that need it, and is an easy way for patients to communicate their personal information to healthcare providers in a timely matter.

These cool new technologies and therapeutics are paving the way for massive change in the hATTR amyloidosis world. To learn more about this screening and counseling program, click here.


Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email
Close Menu