» Subscribe Today!
The Power of Information
Home
The Ledger - EST. 1978 - Nashville Edition
X
Skip Navigation LinksHome > Article
VOL. 39 | NO. 37 | Friday, September 11, 2015

Knoxville a hub for amyloidosis study

By Hollie Deese

Print | Front Page | Email this story

Helen P. McWilliams-Koeppen, MSc, a researcher in Dr. Wall’s lab, works in a biosafety cabinet.

-- Chase Malone | The Ledger

Only a handful of researchers in the U.S. are working toward a better diagnosis and treatment of amyloidosis, an extremely rare and devastating disease.

One of them is Jonathan Wall, director of both the amyloidosis and cancer theranostics program and the preclinical and diagnostic molecular imaging laboratory at the University of Tennessee Graduate School of Medicine in Knoxville.

Wall joined UT in 1995, recruited from South Wales in the United Kingdom by Dr. Alan Solomon, who was developing diagnostic and treatment strategies at the school for patients with amyloid-associated diseases where an abnormal protein is produced. According to the Amyloidosis Foundation, these amyloid fibers can attach and deposit into organs, tissues, nerves and other places, causing them to shut down.

“It’s a rare disease, it’s like multiple myeloma, and Dr. Solomon was passionate about this,” Wall says. “He worked with these patients over the years and promised one of them that he would make a difference. So he had just inspired us to feel the same way. We are not just studying it to see how it works, we are studying it so we can understand it and come up with ideas and interventions that will move their way toward the clinic.”

“The patients who get amyloid without the multiple myeloma side of it have a lot of the same problems, but because it is not classical multiple myeloma clinicians don’t diagnose it early enough, and so they wander around for years with an inappropriate diagnosis,” Wall adds. “And a couple of years is devastating in the lifetime of these patients.”

Wall, Solomon and their team continue to make great strides, including images made with a PET/CT scanner proven to detect amyloid deposits in patients with one type of amyloidosis. This was developed a few years ago.

Currently, they have developed a new set of imaging agents that has yet to make it to the clinical trial stage, a common holdup for rare diseases.

Isabelle Lousada is the director of the Amyloidosis Foundation, working with different myeloma and amyloidosis foundations to provide support and education to patients. Because of a flurry of recent lab activity such as what is happening in Wall’s lab, she is part of a new Amyloidosis Research Consortium created this year that connects the handful of experts working on the disease with patients who wish to take part in clinical trials.

“What is really interesting is in the last handful of years there is suddenly a lot of potential treatments for amyloidosis – up until now there have been no approved therapies for amyloidosis,” she says. “So suddenly there was a need to really improve clinical trial testing.”

Clinical trials for rare diseases are very difficult to conduct simply from a numbers perspective of pulling together enough patients. Lousada explains amyloidosis is so rare it is considered an “orphan disease,” with only about 4,000 new cases diagnosed in the U.S. each year. Consortiums can really speed up the time it takes to accrue for trials, but even still, some of these therapies can take years to get up to the numbers it needs for trial.

“We are in the middle of building a clinical trial finder, because 70 percent of patients don’t know how to get on a clinical trial and would actually like to,” she adds.

“It is not just that there are a limited number of patients, but the patients available don’t know how to get onto these trials. Tools like what Jon Wall is working on, they are not going to get approved, or it is going to take years and years to get approved, unless we can all work together and work with the regulators and scientists and clinicians to really help educate everybody and do trials in a way that will work.”

Lousada was diagnosed with amyloidosis 20 years ago, and unlike most people with the disease, she had a successful stem cell transplant and has done well ever since. Getting an early diagnosis was key, so the more work that can be done in the lab to speed that process, the greater the patient’s life expectancy.

“I was living in the UK at the time and only got diagnosed because the doctor thought I was Portuguese and tested for a hereditary version, though that is not what it was, he did the right test to suss it out,” she says. “And there is a scan they can do in the UK, and it showed I had a high level of amyloid in me.”

The scan she had in the UK two decades ago – with an imaging result similar to Wall and Solomon’s development – is still not available in the U.S., so patients can still go for years with an improper diagnosis.

“If a clinician didn’t know what was going on, but suspected, they could get an imaging test done and confirm or deny what they are thinking,’’ says Wall, adding that for this to happen, the imaging test would have to get to the clinical trial stage in the U.S.

To get diagnosed today, patients usually have a biopsy and certain bloodwork like you would for multiple myeloma, and then have a fairly recent test called the free light chain assay which shows free light chains in the blood that then deposit on the organs and become amyloid.

Wall, Lousada and the small pool of other researchers work tirelessly, because amyloidosis, for the most part, is still truly a deadly diagnosis.

“I have gone into complete remission, so I have been really lucky and tend not to use myself as an example because I am so atypical,” Lousada says. “If everyone was like me it would be like fine, we’re done.

“But the majority of patients – 60 percent die within the first six months because they are too sick to even have treatment. And of those that are well enough, only a small percent could even have a stem cell transplant, because the chemo is so toxic. It is really a fatal disease.”

Follow us on Facebook, Twitter & RSS:
Sign-Up For Our FREE email edition
Get the news first with our free weekly email
Name
Email
TNLedger.com Knoxville Editon
RECORD TOTALS DAY WEEK YEAR
PROPERTY SALES 0 0 0
MORTGAGES 0 0 0
FORECLOSURE NOTICES 0 0 0
BUILDING PERMITS 0 0 0
BANKRUPTCIES 0 0 0
BUSINESS LICENSES 0 0 0
UTILITY CONNECTIONS 0 0 0
MARRIAGE LICENSES 0 0 0