Long-term treatment with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — results in variable but satisfactory motor and respiratory outcomes among older adults recently diagnosed with late-onset Pompe disease (LOPD), a study from Germany reported. According to its researchers, these findings were…
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People with late-onset Pompe disease (LOPD) do not show significant brain abnormalities or general cognitive impairment, in contrast with some patients with the classical infantile-onset form, a study shows. The study, “Is the brain involved in patients with late-onset Pompe disease?,” was published in the…
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…
Maze Therapeutics has announced its plans to begin clinical testing of MZE001, its lead candidate therapy for Pompe disease, in the first half of this year. The California-based precision medicine company raised $190 million in financing — led by Matrix Capital Management — to support the development of…
Patients with classic infantile-onset Pompe disease could benefit from increased dosing of Myozyme (alglucosidase alfa), an enzyme replacement therapy (ERT) marketed as Lumizyme in the U.S., according to a real-world European study. Benefits were seen in improved survival and ability to walk. “On the basis of our results,…
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 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…
L-carnitine — a molecule often taken as an oral dietary supplement — boosts the efficacy of enzyme replacement therapy (ERT), increasing by four times the activity of acid alpha-glucosidase (GAA), the faulty enzyme in Pompe disease, in patient-derived cells, a study shows. The molecule was found to stabilize…
The European Medicines Agency has accepted applications from Amicus Therapeutics seeking approval of AT-GAA, a two-component investigational therapy for the treatment of Pompe disease. “The acceptance of these filings is an important step forward for people living with Pompe disease and their families in Europe. Patients need new…
Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset Pompe disease (LOPD) still develop airway abnormalities and experience reduced lung function, a small Taiwanese retrospective study shows. While none of the five patients in the study required a ventilator…