Spontaneous reversal of devastating heart condition seen in a new study

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For the first time, a study has shown that cardiac amyloidosis, a deadly heart condition, can be reversed.

Cardiac amyloidosis is a heart disorder caused by deposits of an abnormal protein called amyloid in the heart tissue. The amyloid deposits disrupt the normal functioning of the heart and impede the heart's ability to pump blood effectively.

Cardiac amyloidosis has no cure. Additionally, it is difficult to diagnose due to its wide variety of symptoms and similarity to other heart conditions, with most people dying within four years of diagnosis.

However, scientists have now offered hope. In a groundbreaking study, scientists have observed a spontaneous reversal of transthyretin (TTR) amyloidosis or ATTR in the heart, caused by amyloid deposits formed of the blood protein TTR.

In what has been described as an unprecedented case, three men suffering from heart failure caused by amyloid build-up are now free of their symptoms.

Scientists from University College London (UCL), supported by the Royal Free Hospital in the UK, noticed this reversal in three men, aged 68, 76, and 82, diagnosed with ATTR cardiomyopathy (CM).

The team's search began when one of the patients, aged 68, reported that his symptoms were improving. This led them to analyze records of 1,663 patients diagnosed with ATTR-CM. They found that two other patients, aged 76 and 82, reported improving symptoms.

The team confirmed the patients' recovery using bloody tests, an exercise test for one of the patients, and multiple imaging techniques, including cardiovascular magnetic resonance (CMR) scans, echocardiography, and scintigraphy.

The CMR scans revealed a return to near-normal heart function and structure. They additionally showed that the amyloid build-up had almost entirely cleared up.

In a press release, the lead author Prof. Marianna Fontana of UCL Division of Medicine, said, "We have seen for the first time that the heart can get better with this disease."

When the team probed further, they found evidence of an immune response in the three men. The antibodies, which are the body's response to fighting pathogens, were observed to target the amyloid protein.

These amyloid-targeting antibodies were not present in other patients whose disease progressed. This suggested that the antibodies could be responsible for clearing amyloid deposits in the heart and preventing further accumulation.

Even though advancements in medical imaging have led to an increase in the diagnosis of cardiac amyloidosis and high-accuracy monitoring, this result could help to make therapies targeted at clearing away amyloid build-up.

Harnessing these antibodies and combining them with new therapies to suppress TTR protein production could be game-changing. Senior author of the study Prof. Julian Gillmore, the Head of the UCL Centre for Amyloidosis, is leading the charge with one such therapy.

The groundbreaking human trial for NTLA-2001 is a novel gene-editing therapy based on CRISPR/Cas9 for treating cardiac amyloidosis.

It is administered via a single intravenous infusion and aims to inactivate the target gene responsible for producing the TTR protein in the liver, marking the first-ever use of intravenous CRISPR/Cas9 as a therapeutic approach to modify a specific organ's DNA.

Early trial results indicate its potential to halt disease progression.

Even though it is not confirmed that the amyloid-targeting antibodies cause patient recovery, it is a groundbreaking discovery that could pave the way for developing treatments for cardiac amyloidosis.

The findings are published in The New England Journal of Medicine.