University of Florida researchers at the Powell Center for Rare Disease Research and Therapy have successfully used gene therapy to treat patients with infantile onset Pompe disease, a progressive condition that severely compromises cardiopulmonary function in the first years of life.
[Photo: Dr. Barbara Smith]
In study results published online in Experimental Neurology, breathing function improved in patients after gene therapy, compared to a period of treatment with breathing exercises before the gene therapy. The improvements were greatest in patients who were not on full-time ventilator support at the start of the study, and these patients continued to breathe independently for long periods years after treatment.
“These findings are significant because Pompe disease, even when well-controlled, is progressive. Functional improvements in breathing are not the expected natural course of Pompe disease,” said Dr. Barbara Smith, a co-investigator and a research assistant professor in the UF College of Public Health and Health Professions’ department of physical therapy.
Pompe disease is a genetic disorder caused by the absence or deficiency of alpha-glucosidase, an enzyme required to break down the complex carbohydrate glycogen and convert it into glucose. The infantile onset form of the disease is the most severe, with untreated patients experiencing significant heart and lung failure by the second year of life.
Gabi Hernandez’s child was 4 years old and in a steady state of cardiopulmonary decline when the gene therapy was administered. She said her child’s health improved within months after dosing, noting that her child had a stronger cough and discontinued use of mechanical cough assistance and inhalers. Hernandez said her child’s cardiopulmonary health remains stable two years after treatment.