Every four months, Maisy, 2 ½, travels with her mom and dad seven hours from Underwood, Iowa to Lurie Children’s. They make this trek because Maisy is part of a groundbreaking spinal muscular atrophy (SMA) clinical trial run by Nancy Kuntz, MD, Medical Director, Mazza Foundation Neuromuscular Program and Director, Muscular Dystrophy Association Clinic.
As a baby, Maisy was diagnosed with SMA, a genetic disorder affecting nerves that control muscle movement. Infants with SMA do not produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor nerve cells. Babies born with SMA often do not survive beyond two years of age. “At two months old Maisy had lost all movement except that of her fingers,” says Becca Wiggins, Maisy’s mother.
At 15 weeks old, Maisy was enrolled in a 13-month, international, randomized, multicenter, sham procedure-controlled, phase 3 trial called ENDEAR and was treated with the drug nusinersen (Spinraza). The final results from the clinical trial, supported by Biogen and Ionis Pharmaceuticals, were published in the New England Journal of Medicine.
“This landmark study provides the most robust type of evidence that nusinersen, which targets the genetic defect in SMA, can safely and effectively help infants with this devastating condition gain muscle function,” said study co-author Nancy Kuntz, MD, Principal Investigator at Lurie Children’s.
Nusinersen is the first drug for SMA to receive approval by the U.S. Food and Drug Administration (FDA). The drug is designed to increase production of fully functional SMN protein by regulating gene expression and is administered by injection into the spinal fluid. Repeated doses are needed. During Maisy’s visits to Lurie Children’s, she receives maintenance doses of nusinersen, blood work and physical therapy assessments – all part of an extension trial to the ENDEAR clinical trial.
“The trial has given us so much hope for Maisy’s future and all those who live with SMA. We are so honored and proud to call Maisy our daughter, to know she helped pave the way for every future SMA diagnosis is truly remarkable,” says Becca. “We pray every family after us who receives an SMA diagnosis, no longer has to live and feel such heartache because of the promising results of spinraza.”
Today at nearly 3 years old, Maisy loves to sing and dance to her favorite “Frozen” songs, play mama to her baby dolls and help bake all her favorite treats. “Over the last three years we’ve seen slow and steady gains in Maisy’s strength and abilities thanks to the drug and extensive physical, occupational and aquatic therapy,” says Becca. “She currently is learning to bear weight through her legs by using a gait trainer device. The future is unknown for these kiddos but we know the sky’s the limit and every milestone is a miracle. Becca says, “Maisy is truly a living miracle as most with her diagnosis pass away by their second birthday. We are forever grateful for all the staff at Lurie Children’s and the life they have given our Maisy!”
The ENDEAR study was supported by Biogen and Ionis Pharmaceuticals.
Research at Ann & Robert H. Lurie Children’s Hospital of Chicago is conducted through the Stanley Manne Children’s Research Institute. The Manne Research Institute is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge. Lurie Children’s is ranked as one of the nation’s top children’s hospitals in the U.S.News & World Report. It is the pediatric training ground for Northwestern University Feinberg School of Medicine.