AInylam initiatives aim to speed ATTR-CM diagnosis, coordinate care
Partnerships focus on addressing gaps in technology, management
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Alnylam Pharmaceuticals is supporting two initiatives aiming to transform transthyretin amyloid cardiomyopathy (ATTR-CM) management, with a focus on earlier diagnosis and more coordinated care.
The initiatives involve artificial intelligence (AI) tools and multidisciplinary care reform to address persistent gaps in diagnosis and care for people with ATTR-CM, a progressive and life-threatening heart condition that often goes undetected until it’s too late.
“As a cardiologist, I’ve seen firsthand the devastating impact of diagnosing ATTR-CM too late,” Sameer Bansilal, MD, vice president and global TTR medical lead at Alnylam, said in a company press release. “This is a progressive disease where timing truly matters — earlier recognition can fundamentally change a patient’s course of disease.”
ATTR-CM is caused by misfolded transthyretin proteins that accumulate as toxic clumps, known as amyloid deposits, mainly in the heart. These deposits stiffen the heart muscle, preventing it from pumping blood effectively, which can ultimately lead to heart failure.
The disease is either hereditary, linked to genetic mutations, or wild-type, which develops with age. Despite affecting an estimated 350,000 people globally, about 80% of cases remain undiagnosed, largely due to nonspecific symptoms such as fatigue, swelling, and chest pain, as well as limited awareness among clinicians.
Pilot study to test AI-powered screening
Alnylam is partnering with Viz.ai to build an AI-powered care pathway to catch ATTR-CM earlier. The system pairs an AI algorithm called Us2.ai, cleared by the U.S. Food and Drug Administration (FDA), with electronic health record integration to help clinicians flag potential cases as soon as possible.
Central to the partnership is a study called AWARE, or AI-Enhanced Echocardiography Workflow to Advance Recognition and Diagnosis of Cardiac Amyloidosis. AWARE will test how AI-based screening tools can be implemented in real-world healthcare settings and whether they can shorten the time to diagnosis and improve care coordination.
The initiative will begin later this year with a pilot study across five health systems chosen to represent a range of clinical settings. The goal is to gather real-world evidence to support a broader rollout across the nearly 2,000 hospitals connected to the Viz.ai network.
“By embedding AI-driven detection into everyday clinical workflows and pairing it with coordinated care pathways, this collaboration focuses on closing the gap between the first clinical signal and meaningful clinical action,” said Tim Showalter, MD, chief medical officer at Viz.ai. As a result, “more patients are identified and connected to care sooner before irreversible damage has occurred.”
Alnylam is also supporting a three-year national effort led by the American Heart Association (AHA) to improve ATTR-CM care. Called “ATTR-CM Discovery Initiative: Improving the System of Care Across the ATTR Patient Journey,” the initiative brings together 10 multidisciplinary healthcare teams across the U.S.
The goal is to better understand and improve care pathways, from diagnosis and referral through ATTR-CM treatment and follow-up.
“By bringing multidisciplinary teams together to examine the full patient journey — from diagnosis through long-term management — this new initiative is helping identify practical, scalable approaches that can support earlier recognition, more coordinated care and better outcomes for people living with this disease,” Mat Maurer, MD, a volunteer member of the AHA’s ATTR Amyloidosis Strategic Advisory Group and professor of medicine at Columbia University Irving Medical Center in New York, said in an AHA press release.
“We are proud to support the American Heart Association’s new ATTR-CM initiative and its focus on understanding gaps in care, sharing successful models and strengthening systems that can improve the experience and outcomes for people affected by this devastating disease,” Maurer said.
