Even slowing is big

For as rapid and relentless as MSA is, Dr. Singer and neurologist Phillip A. Low, M.D., have been working for the past five years on a leading-edge regenerative medicine approach to manage the disease progression by using adult stem cells procured through the patient's own fat cells.

An early-stage trial of 24 people with MSA, including Steve, began in 2013. Dr. Singer says, "Most patients receiving this experimental treatment experienced a slower progression than MSA patients who did not receive stem cells."

The final follow-up of the patients ended in the summer of 2016.

The participants were so grateful to have participated in the study they asked Dr. Singer what was next after the first year of injections. Drs. Singer and Low petitioned the Food and Drug Administration to allow them to continue injecting adult stem cells every six months under compassionate care protocols. Every participant offered the ability to continue the treatments did so.

"We also want to make it clear to patients, this is not a cure," Dr. Singer says. "Patients still progress, but it seems to be something that slows the disease course. Looking at neurodegenerative disorders, we don't have anything like this. Even slowing is a big thing."

Steve and Mary say while they hope for a cure, it's been made very clear to them that Steve's condition will progress.

"In the excitement of seeing good results, we had to keep saying, 'This isn't a cure; this isn't a cure,' " Mary says. "We're aware that it's not a cure, but we take what we've got because there is nothing else available."

Steve and Mary estimate his first symptom appeared more than six years ago. Steve remains able to walk — a major marker in the disease's progression — and still participates in activities such as Pilates and paddling with the Hanalei Canoe Club twice a week when they're vacationing in Hawaii.

"We just go on," Mary says. "We don't spend a lot of time thinking about MSA."

Dr. Singer plans to launch a larger five-year multicenter trial of 90 participants in the near future and believes the earlier in the diagnosis they can find participants, the better patients will respond to the stem cell injections.

"The next phase trial will be very expensive, and we will need additional resources to support it," Dr. Singer says. "This line of research can make an impact on the lives of our patients."