John and ALS: Participating in an NIH Clinical Study

Thursday, August 18, 2016

I had the great pleasure of meeting Mr. John Michael and Dr. Avi Nath in the NIH Clinical Center (CC), a few minutes before my first time witnessing a spinal tap and understanding why the procedure is called that.

Meet John and Avi in the NIH Clinical Center via the above video.

Waiting in the hallway outside of the room in the CC’s Neurology Inpatient Unit as nurses and staff with various equipment whizzed about, I flashed back with a smile on the dozen or so patients I’ve met with our video camera over the years, usually with a photographer in tow. This time I was running solo to minimize the number of bodies in the room, unfortunate because John is an engaging conversationalist who could easily entertain a larger group.

After exchanging the important medical information and consents with study coordinators, John invited me in to say hi and setup the camera before the action began. Over the next two hours I got to know John a bit as he shared stories of his life growing up on Long Island, New York, playing sports, skiing and riding bicycles, before being diagnosed with amyotrophic lateral sclerosis (ALS) two and a half years ago.

“I kind of made it a mission of mine to find out as much as I can, what’s available out there as treatments, trials,” John says, “and just my way of giving back, whether it helps me directly or somebody who comes after me.”

He came to the right place.

Dr. Nath is a senior IRP investigator who studies the role of endogenous retroviruses in neurological diseases—an incredibly interesting sounding pursuit that I’d never heard of before. Retroviral sequences occupy nearly 7-8% of the human genome, while generally remaining dormant. Dr. Nath has shown that one virus termed HERV-K is activated in ALS, and transgenic animals that express the envelope protein of HERV-K develop ALS-like symptoms. His team's 2013 findings suggested that “endogenous retroviral elements are involved in the pathophysiology of ALS, but there is no evidence that they are the primary cause of the syndrome.” They now uses a wide variety of in vitro and in vivo studies to determine the mechanism by which HERV-K expression is regulated and causes neurotoxicity to motor neurons.

To better understand the pathophysiology of the disease, Dr. Nath’s team has recruited people diagnosed with ALS, such as John, to donate samples that they can use in attempt to develop assays whereby they can measure biomarkers of HERV-K in the blood or spinal fluid.

Especially during such a delicate procedure as a spinal tap, the hospitality and bedside manner of Dr. Nath and his team was evident, the more so when the conversation around John’s ALS progression got heavy. John’s smile and good humor was ever-present. Please enjoy hearing from them both in the video above, and share with your friends or colleagues.