Lab notes …

News about research and grants at UF Health 

New hope for Pompe disease

Walking and breathing without mechanical assistance typically becomes a struggle for patients who have Pompe disease because of weakened, damaged muscles as they age. UF Health researchers have identified how prior to these devastating effects, hidden physiological changes occur in the body’s neuromuscular junction, the part of the body where the nervous system connects to the musculoskeletal system. These negative changes that occur in the neuromuscular junction trigger the muscle weakness that causes the mobility and breathing challenges these patients face. With this understanding, the researchers also conducted early gene therapy studies in a Pompe disease mouse model using a virus delivery system that not only targets the muscle, but also reaches the nervous system. Early results in mice using gene therapy with adeno-associated virus 9, or AAV9 — which deftly shepherds a corrective gene into the body — show the therapy improved breathing function in diseased mice more than the current conventional therapy. The research was led by Darin Falk, Ph.D., and Barry Byrne, M.D., Ph.D. — April Frawley Lacey

Recovery after stroke

Time may heal all wounds, but in the case of stroke survivors, the key to better recovery is to spend more time in an intensive physical therapy program. After a stroke, the brain and body can start recovering immediately and can show improvement up to six months afterward, according to new research by Janis Daly, Ph.D. But this study, which was published in The Archives of Physical Medicine and Rehabilitation, focused on people who had persistent disability even a year or more after completing standard care. The study found that extensive physical therapy helped them recover motor function, even though they began the study treatment a year or more after stroke. — Morgan Sherburne

Gene therapy for GSD

UF Health researchers are working with a national rare-disease company to bring the first human gene therapy trials to patients with the most common form of glycogen storage disease. Once established, the clinical trials will take place at UF Health, where much of the underlying research has occurred. UF Health is also home to the world’s largest clinical and research programs for glycogen storage disease. Glycogen storage disease type Ia is a rare condition, occurring in about one in 100,000 people worldwide. The condition affects how sugar is stored and processed in the body after eating. Currently, there are no pharmacological treatments for this condition. The only treatment is precise doses of cornstarch at specific times throughout the day. While the treatment works, it is not ideal for long-term care, said David Weinstein, M.D., director of UF’s Glycogen Storage Disease Program. — April Frawley Lacey