New RNA-Focused Treatment Could Treat Rare Disease, Amyloidosis

In a milestone study, researchers demonstrated the safety of a new treatment that disrupts the body’s ability to make a specific protein, which may ultimately help treat patients who have the rare, often incurable and fatal disease amyloidosis.

The treatment involves a type of RNA, a molecule involved in translating the body’s DNA code into proteins. Researchers produced a specific molecule that targeted the piece of RNA responsible for creating a protein called transthyretin.

In people with transthyretin amyloidosis, transthyretin folds improperly, clumps together in plaques called amyloids, and then impairs nerves and the heart.

“We are developing a tool to suppress the abnormal protein that causes the disease [transthyretin amyloidosis], and we expect in the near future to have a new and potent drug to treat our patients,” said lead researcher Dr. Teresa Coelho, of the Hospital de Santo Antonio in Porto, Portugal.

The study is being published today (Aug. 28) in the New England Journal of Medicine.

Amyloidosis: A deadly disease

There are several types of amyloidosis — they vary by the protein affected and by which organs are impacted. Transthyretin amyloidosis is an inherited, single-gene disorder and is far more common in Portugal than elsewhere. One in 538 people in northern Portugal have the condition, while in the United States, the rate is thought to be between one in 100,000 and one in 1 million, according to the National Institutes of Health.

Transthyretin is produced in the liver, and the only available treatment for transthyretin amyloidosis in the United States is a liver transplant, which many patients are not candidates for because of their age or health at the time of diagnosis.

The condition is otherwise incurable, and patients typically die five to 15 years after diagnosis.

With the new treatment, called ALN-TTR02, the RNA interference prevents assembly of the faulty protein.” We have no evidence that transthyretin… is essential for life,” Coelho said. Thus, a drug that suppresses its production seems the perfect tool to prevent the deadly consequences of amyloidosis, she said.

In the trial, 32 amyloidosis patients who took the drug saw a roughly 70 to 80 percent reduction in their transthyretin levels. It’s unclear what the long-term results may be, including whether people taking the drug will live longer.

To better understand the drug’s effects, the researchers also gave it to 17 healthy people and found they experienced no side effects. [7 Bizarre Drug Side Effects]

“It’s an impressive number, but who knows, with amyloid, how much is sufficient to at least slow the progression of the disease,” said Dr. Morie Gertz, a hematologist at the Mayo Clinic. “It’s an important proof of principle; I don’t know that it will turn out to be a clinical breakthrough for patients.”

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