Rare Disease Drug Research May Hold Key To Curing Cardiovascular Disease

Pharmaceutical researchers at Merck have developed a promising drug called Ionafarnib to combat the rare disease progeria, a fatal affliction that causes rapid aging in children. According to the Wall Street Journal, children suffering from progeria die of heart attack or stroke at a young age due to an excess of the protein progerin, which accumulates in the body as people age. Researchers hope that better understanding progerin formation may inform their understanding of the body’s aging process, which could lead to medical breakthroughs in curing common cardiovascular diseases:

The drug appeared to slow, and in some cases reverse, damage caused by the disease, including arterial stiffness, which also is linked to heart problems in the normal aging population. [...]

Over the past few years, papers have been published demonstrating that progerin, a mutant form of the Lamin A protein, which is critical in organizing the genome inside the body’s cells, accumulates in everyone as they age. The thinking is that a drug that mitigates cardiovascular problems in children with progeria might also affect cardiovascular problems more broadly.

“More data suggests that this mechanism at least in some cases may be related to things that happen in normal aging, and the study is of interest in that regard,” said Brian Kennedy, president and chief executive of the Buck Institute for Research on Aging in Novato, Calif.

The findings in the Ionafarnib trial underscore the often unpredictable nature of medical and pharmaceutical innovation. Major breakthroughs in medical science were born out of research geared towards entirely unrelated subjects, including the discoveries of insulin and penicillin — in fact, Ionafarnib itself was meant to be a cancer-treatment drug before showing promise for progeria patients. It goes to show that continued innovation and research into rare disorders has the potential to unlock countless biomedical mysteries that plague the human species.