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Research at Mass General
Sagar Nigwekar, MD, MMSc, is using patient samples from the Partners Biobank to gain a better understanding of a rare but painful and debilitating disease called calciphylaxis.
Sagar Nigwekar, MD, MMSc, is utilizing patient samples from the Partners Biobank to gain new insights into calciphylaxis. This rare condition, which is caused by high levels of calcium in the blood, results in the calcification of the blood vessels that supply blood to the skin. The damaged blood vessels materialize as purple or black lesions on the patient’s skin, where skin tissue has been damaged due to lack of circulation.
Calciphylaxis is rare, and most often presents in patients with kidney disease. It is only diagnosed in about 1% of patients on chronic dialysis, and in individuals without kidney disease it is even more uncommon—affecting one in 100,000 people.
But that does not mean that this disease is any less serious. The condition causes painful lesions that can be debilitating or even life-threatening if they become infected. Due to the rarity of this condition, it has received minimal resources for study, and little has been understood about its causes and treatment options.
Dr. Nigwekar is hoping to change that via a randomized clinical trial that began in January of 2015. The trial stems from the analysis of samples from patients with calciphylaxis that were retrieved from the Partners Biobank, which is now the world’s largest repository of blood samples of this rare condition.
The trial aims to determine whether administering supplemental Vitamin K can help prevent and treat calciphylaxis. Vitamin K has proven effective for inhibiting calcification in blood vessels, but the effects of the supplement on patients with calciphylaxis is still unclear. Learning more about the biology of this condition may also shed light on calcifications in the blood vessels in other parts of the body, such as the heart and brain.
“There are so many subtleties in how the genetic makeup of a patient will dictate response to treatment,” said Dr. Nigwekar. “The Biobank will play a huge role in helping us to understand the biology of diseases, to develop treatments and to monitor outcomes.”
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