Gene therapy used to treat pulmonary dysfunction in Pompe disease
The team at UF’s Powell Center for Rare Disease Research and Therapy conducted the first in-human study of gene therapy to treat respiratory dysfunction in patients with infantile onset Pompe. In the study, which began in 2011, an adeno-associated virus vector was used to carry a functional copy of the affected gene to muscle cells in the diaphragms of nine patients.
In study results recently 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, said Barbara Smith, Ph.D., P.T., a co-investigator of the study and a research assistant professor in the department of physical therapy at UF’s College of Public Health and Health Professions, part of UF Health.
Click Here to read more.