Data from STRIDE, an international registry for patients with Duchenne muscular dystrophy due to a nonsense mutation who are receiving ataluren (PTC Therapeutics), show that the drug preserves lung function in children and adolescents compared with a matched cohort in a long-term natural history study. The real-world analysis was presented at the 24th International Annual Congress of the World Muscle Society.
"It's very encouraging to see positive lung function results in a real-world setting and provides reassurance that ataluren is slowing disease progression," said study author Eugenio Mercuri, MD, PhD, Professor of Pediatric Neurology at Università Cattolica del Sacro Cuore in Rome. "Respiratory failure is the primary cause of disability and death in patients with Duchenne, and monitoring and preserving lung function is a key clinical priority.”
Researchers evaluated forced vital capacity (FVC), a measure of lung function in Duchenne patients that correlates with disease progression and mortality. The STRIDE data showed that 32.1% of standard of care patients from the natural history cohort had an FVC of less than 50%, compared to only 2.2% of patients receiving ataluren after a mean total exposure of 633 days. The data also indicate that ataluren significantly preserved patients' ability to stand up from lying and to climb stairs compared with natural history.
After loss of ambulation and loss of the use of the arms, the respiratory muscles of people with Duchenne start to progressively deteriorate, leading to the risk of life-threatening respiratory complications and the need for ventilation support. Patients with a predicted FVC of less than 50% are considered to be in the late nonambulatory stage of Duchenne. To conduct the analysis, patients from the STRIDE Registry were matched against a comparable cohort of patients from the Cooperative International Neuromuscular Research Group Natural History Study, based on their propensity for disease progression.
Ataluren (sold under the brand name Translarnaä elsewhere in the world) is an investigational new drug in the United States.
Source: PTC Therapeutics, October 4, 2019