This post summarizes a multi-media presentation titled Beacon of Hope that University of Utah Health published this week in honor of Rare Disease Day.

By definition, a rare disease doesn’t affect that many people, so in many cases treatments are slow in developing and very expensive. But there are at least 7,000 such diseases that collectively affect 10% of the U.S. population.

Many rare diseases are genetic in origin with no treatments available, but that is changing.

In Beacon of Hope, U of U Health is shining a spotlight on one fatal inherited disease that has been largely tamed through recent developments in gene therapies. A genetic disorder in children, spinal muscular atrophy, or SMA, impairs the motor neurons in the spinal cord, making it difficult for the brain to communicate with the muscles in the body.

Patients are usually diagnosed with the most common form of the disease in infancy and, prior to the advent of gene therapies, few could expect to survive beyond a few years.

At least 370 babies are born with SMA Type 1, also called Werdnig-Hoffmann disease, every year in the U.S., about one in every 6,000 to 10,000 live births. It was once the leading genetic cause of death in babies in the U.S.

U of U Health’s reporting by Stephen Dark and photography by Charlie Ehlert and Niki Chan Wylie follows three Utah families affected by SMA, including the family of Evie Snow Lewis, the girl pictured above. Now almost 7, Evie is expected to live a full life after receiving treatments through the Utah Program for Inherited Neuromuscular Disorders (UPIN) at the University of Utah and Intermountain Primary Children’s Hospital. UPIN works with families to research and treat inherited nerve and muscle disorders.

Unlike surgery or traditional medications, gene therapy is a new kind of treatment that modifies a patient’s genes. Two gene therapies now offer an answer to the tragedy of children’s lives cut short by SMA. The U.S. Food and Drug Administration approved a treatment called Spinraza in 2016.

UPIN is one of a handful of centers in the country to research, test and ultimately administer gene therapies like Spinraza. While not cures, these therapies stave off life-shattering and, finally, fatal symptoms of the disease. This success has made SMA the poster child for the potential of gene therapy.

Diagnosed with SMA before she was even born, Evie was among the first to receive Spinraza in April 2017 and has looked forward to her triannual doses of what she called “muscle juice.” Today she is meeting normal developmental milestones.

Visit Beacon of Hope, to learn about how gene therapies are being developed, the U and Intermountain Primary Children’s Hospital’s role in providing them, and the stories of Utah families affected by SMA.

• Julie Kiefer Associate director, science communications, U of U Health
  801.587.1293 julie.kiefer@hsc.utah.edu