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Home / Health Conditions / Heart Attack/Heart Health / New Therapy May Combat Rare Genetic Disorder, Amyloidosis

New Therapy May Combat Rare Genetic Disorder, Amyloidosis

Transthyretin (TTR) mutations known to cause cardiac amyloidosis include V122 which is found almost exclusively in Blacks at a prevalence of 3-3.9%. Amyloidosis refers to a family of more than a dozen diseases in which different types of abnormal proteins called amyloids lodge in major organs and nerves. These amyloids build up to the point that they cause damage and ultimately end in organ failure.

According to researchers, a new medication appears to be highly effective in combating a heredity-based form of the organ-damaging genetic disorder.

The new therapy caused a marked decline in blood-borne levels of an amyloid protein called transthyretin, or TTR, in 32 patients suffering from amyloidosis during one of the two Phase I drug trials, said the study’s co-author, Dr. Akshay Vaishnaw, chief medical officer for Alnylam Pharmaceuticals, which developed the medication and funded the trials.

“We can dramatically reduce the levels of TTR protein,” Vaishnaw said. “In fact, we can reduce them by 94 percent. One shot a month will produce this reduction.”

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Amyloidosis is a very rare disease. Between 1,500 and 2,500 Americans, a year are diagnosed with AL amyloidosis, the disorder’s most common form, according to Harvard Medical School. Heredity-based forms of amyloidosis, most of which are related to transthyretin, are even rarer.

People suffering from TTR amyloidosis eventually become

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