G.P.16.01. The Pompe registry: Tracking Pompe disease symptoms in a broad patient population

Introduction: Pompe disease (acid maltase deficiency) is a rare, progressive, and often fatal metabolic myopathy, which manifests as a clinical spectrum that varies with respect to age at onset, rate of disease progression, and extent of organ involvement. The underlying pathology is a deficiency of acid alpha-glucosidase (GAA). To gain a better understand of the natural course of Pompe disease, a global, voluntary, observational Registry was developed to collect anonymous, longitudinal data. Preliminary data overview: As of September 2007, 400 patients from 23 countries are enrolled; the majority (71%) are Caucasian. Europe and North America enroll 85% of patients. For infants (n = 78, 20%), the median age at symptom onset was 2.0 months and median age at diagnosis was 4.0 months. For adults (n = 238, 60%), the median age at symptom onset was 26.3 years and median age at diagnosis was 34.5 years. Patients currently ⩾18 years old (n = 259) report the following symptoms most frequently: muscle weakness [lower extremities (81%), upper extremities (71%), trunk (57%)]; shortness of breath after exercise (61%) and at rest (33%); dependence on respiratory support (39%); sleep disturbance/apnea (37%); orthopnea (34%); and scapular winging (31%). Of the patients genotyped, 54% (76/140) expressed the IVS1-13T≫G mutation. Summary: These results show a significant delay from symptom onset to diagnosis in adult patients and highlight the need for greater disease awareness. As the Pompe Registry matures, data on prevalence and age at onset of symptoms in various patient subgroups may allow physicians to identify patients at earlier stages of disease progression; thus enabling therapeutic intervention before irreversible muscle damage occurs.