Gio was diagnosed at birth with X-Linked Myotubular Myopathy (XLMTM), a rare genetic neuromuscular disorder characterized by muscle weakness, shortness of breath and early death. It was a shock to his parents, who had two older daughters in great health.
“When he was born, they told us he wouldn’t survive—not even one day,” said Gio’s mother, Guadalupe. “He couldn’t move at all. Thank God he was always working for his life.”
At one month old, Gio was transferred to Lurie Children’s, where he spent 10 months as an inpatient before coming home. Doctors determined Gio needed a ventilator, a feeding tube and multiple forms of therapy to maintain as much muscle strength as possible. Yet as he grew older, he continued to miss key milestones like sitting up, and remained unable to make facial expressions, blink, or hold anything heavier than a tissue.
After 10 months at Lurie Children’s, Gio came home, requiring 24-hour nursing care to ensure he was able to breathe. His loving parents and older sisters worked hard to support Gio through physical and occupational therapies, but after four years, he was still unable to move independently and communicate with his family.
That’s when Guadalupe enrolled her son in an international clinical trial at Lurie Children’s led by Dr. Nancy Kuntz, Principal Investigator (PI) at Lurie Children’s, Medical Director of Mazza Foundation Neuromuscular Program and Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine. The drug, ASPIRO, introduces myotubular DNA into the patient’s genes with a single injection, allowing the DNA to essentially rewrite itself to form stronger muscles, according to Dr. Kuntz.
Within just two weeks of the trial, Guadalupe saw signs of improvement when her son smiled at her for the very first time.
Now two years into the trial, Gio has made continuous, stunning progress. He is able to walk independently, hold up his head, putting clothes away, and spend time outdoors. His family even describes him as the “star of the show at home.”
As Gio attends school virtually, he is able to sit up, raise his hand and type on his laptop. Since he has always had full cognitive abilities, this is vastly important to his family. Before, he was “locked in” and couldn’t engage with others, but now his intelligence shines, especially in math class.
Dr. Kuntz, who has cared for Gio since he was one month old, attributes his progress to the gene therapy treatment as he continues to gain strength every day. The study uses a respiratory virus called adeno-associated virus that is genetically modified to not cause illness but deliver a functional copy of the MTM1 gene, which encodes a protein involved in the function of muscle cells. This gene is defective in myotubular myopathy. By targeting the genetic cause of the disease and replacing the dysfunctional gene, researchers hope to help patients gain muscle function.
“This clinical trial has very rapidly produced function in the muscles,” Dr. Kuntz said. “We saw children learn to swallow within the first month after treatment and we saw all of that progress to gain motor strength in all of their muscles. It is clearly this treatment that has taken his life and made a 180-degree turn and moved him forward. No children who have required ventilatory support with XLMTM have ever grown and matured to a point where they could be taken off the ventilator. It’s just not seen. To see him come completely off the ventilator, to the point where that equipment isn’t kept at home anymore – it’s unbelievable.”
“Before, it was just like, He’s not going to be able to do anything. He’s not going to be able to be anyone,” Guadalupe said. “Now, he’s independent and he doesn’t need Mom to do all that kind of stuff. Just to see him walking around without anything feels so good. He’s not depending on anything.”
Here at Lurie Children’s, our research team works tirelessly to bring our patients and families an abundance of clinical research opportunities, including cutting-edge gene therapy clinical trials. Our multidisciplinary team of clinicians and research staff conduct various research projects to help further the groundbreaking change to treatments for children with neuromuscular disorders. We participate in studies funded by the National Institute of Health (NIH), pharmaceutical companies and our own investigator-initiated studies. We hope our research efforts will improve the lives for children and families living with neuromuscular disorders. Learn more.