Gene Therapy Breathes New Life Into Pompe Disease Treatment

Pompe disease affects roughly one person in every 40,000. One form of the disease specifically develops within the first months of birth, or early on in childhood. Now, the first human trial of a gene therapy for this disease has been tested in Florida. Keep reading to learn more about this development, or follow the original story here.

No cure currently exists for Pompe disease, although enzyme replacement therapy may help. Patients typically experience heart troubles, difficulty breathing, and muscle weakness. This results form a genetic mutation that prevents a patient’s body from producing a needed protein. The missing protein normally breaks down glycogen – a complex sugar molecule used for energy. When this excess sugar builds up in the body it causes the symptoms associated with the disease.

Scientists conducted the clinical trial at University of Florida Health. Nine patients participated. Detailed results of the study can be found in the journal Human Gene Therapy Clinical Development.

Researchers utilized an innocuous adeno-asociated virus as the carrier for their gene therapy. The virus delivers a working copy of the abnormal gene identified in Pompe disease. The gene specifically aids muscle cells in the patient’s diaphragm in efforts to repair respiratory damage.

During the trial, researchers divided participants into two groups. The groups received differing levels of gene therapy treatment. Researchers observed no negative effects in either group as a result of the therapy. One participant died as a result of brain hemorrhaging. Researchers indicate, however that this was a result neither of the therapy, nor of Pompe disease progression.

Researchers also provided comparisons between their ongoing work and the current method of treatment for Pompe disease. Current treatment focuses on replacing enzymes within the body. This requires routine intravenous infusions. While this method does seem to reduce symptoms, and stave off long term damage, treatment is prohibitively costed. Furthermore, enzyme replacement therapy fails to treat the neurological effects of Pompe disease.

This final detail is something that separates the new gene therapy treatment from the current method. The gene therapy can actually restore function to neurons and nerve cells. When “given systematically,” the gene therapy vector is able to enter the brain and apply corrections to the neurons which share deficits with the muscle cells in Pompe disease.

An earlier study by a University of Florida Health team also showed that gene therapy provided therapy for breathing difficulties. Over the course of one year, the therapy treated breathing function in five patients. Researchers were not, however, able to prove safety in this previous study.

Researchers now plan to test the therapy by another trial this summer. This trial hopes to determine how successful the therapy will be if administered intravenously. Furthermore, the research team seeks to determine the effective longevity of the treatment as children grow. Estimates place the treatment’s lifespan from five to ten years, but younger children may need additional exposure to therapy to support this.

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