A new clinical trial published on ClinicalTrials.gov is underway to learn if heart scans and blood tests can spot early signs of hereditary transthyretin cardiac amyloidosis (hATTR-CM) in Black Americans who carry a specific genetic mutation. The goal is to find the condition before symptoms ever appear — when treatment could be most helpful.
hATTR-CM is caused by a change in the gene that codes for transthyretin (TTR) protein, which leads to the buildup of TTR clumps in the heart. Over time, these clumps stiffen the heart muscle, making it harder to pump blood. Treatments that stabilize the TTR protein exist and are most effective when prescribed early in the disease. But many people are diagnosed after the disease has become advanced.
Now, researchers from the University of Texas Southwestern Medical Center, Columbia University Medical Center and the Cleveland Clinic are teaming up to see if a combination of advanced heart scans (known as cardiac MRI) and testing for certain markers in the blood can detect warning signs of hATTR-CM before symptoms appear.
The study is focused on people who have the V122I mutation in the TTR gene. The V122I gene variant is the most common cause of hATTR-CM worldwide and is found almost exclusively in people of African ancestry. In the United States, about 1.5 million Black Americans carry this gene variant.
Read more about ATTR-CM testing and diagnosis
The study will follow 500 people, including carriers of the V122I gene variant who have no heart symptoms, a comparison group without the gene variant and individuals who already have symptoms of hATTR-CM.
To join the study, participants must be between 30 and 80 years old and meet other health criteria. Those already diagnosed with other heart conditions won’t be eligible. The study will take place at three major medical centers in Dallas, Cleveland and New York City.
The hope is that this research will lead to earlier detection and treatment of hATTR-CM — before the heart is damaged — leading to better health outcomes for Black Americans with the V122I gene variant.
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