G.P.16.02. Results of a survey examining neuromuscular specialists’ and neurologists’ ability to suspect Pompe disease

Abstract

Introduction: Pompe disease, also known as acid maltase deficiency (AMD) and Glycogen Storage Disease Type II (GSDII) is a rare, genetic myopathy caused by a deficiency in acid alpha-glucosidase (GAA). The progressive cardiac, respiratory and skeletal muscle damage that occurs in response to glycogen accumulation in lysosomes may result in premature death, especially in infants. Clinical studies report that response to enzyme replacement treatment (ERT) is best when initiated prior to extensive muscle damage, making early diagnosis necessary to optimize outcomes. However, information from case histories, and the Pompe Disease Registry indicate that diagnostic delays are common among all specialties treating Pompe disease. Objective: Examine Neurologists’ (including Pediatric Neurologists’) and Neuromuscular Specialists’ (NMS) ability to suspect Pompe disease, and determine awareness of ERT. Method: An online survey was distributed to relevant physicians in the US, UK, Germany, Italy and Spain; telephone interviews were conducted with Japanese respondents. (N = 457; 70 interviews/country except US 107). Results: When presented with an adult Pompe disease profile, very few Neurologists (3% overall) suspected PD, AMD or GSDII (7% US, 6% UK, 3% Germany, 0% Italy/Spain/Japan and 3% Pediatric Neurologists). The numbers for NMS were only slightly higher (8% overall including 12% US, 15% UK, 17% Germany, 3% Italy, 9% Spain, 0% Japan). Many missing the diagnosis made a diagnosis of myopathy or muscular dystrophy. ERT awareness was 41% overall, with the highest rates among Pediatric Neurologists (70%), NMS in Spain (68%), and Neurologists in Germany (58%); and comparatively low rates among Neurologists in the US (32%), Italy (32%) and Japan (20%). Conclusions: This research indicates a need to provide these physicians with information to enable them to better distinguish Pompe Disease from other muscular dystrophies/myopathies, and to build awareness of the availability of ERT.