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Rare Disease Day Events Bring Awareness, Equity to Patients

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Experimental Gene Therapy AT845 Shows Promise in Animal Study

An investigational gene therapy called AT845 could effectively increase the activity of an enzyme that’s deficient in mouse and nonhuman primate models of Pompe disease, according to a study. The research also highlights potential complications that can occur when gene therapies designed for use in humans are tested in…

Severe Impairments Seen in Diaphragm Motion, Study Shows

Pompe disease patients show severe impairments in diaphragm motion, the major muscle of respiration, when compared with those who have other muscle disorders or motor neuron diseases, a small study reports. The study, “Diaphragmatic dysfunction in neuromuscular disease, an MRI study,” was published in the journal Neuromuscular…

Gene Therapy Potentially Better Than ERT for Pompe, Study Shows

Gene therapy given with chaperones — specific molecules known to stabilize the structure of proteins — was found to enhance the availability of acid alpha-glucosidase, known as GAA, the missing or defective enzyme in Pompe disease (PD), in a mouse model. The treatment subsequently eased disease symptoms, with the…