Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

摘要: Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is still not completely defined. Available data shows a close relationship between outcome and patients’ cross-reactive immunological status (CRIM), being CRIM-negative negative prognostic factor. At same time limited are available on treatment in CRIM-positive infants. A retrospective multicentre observational study was designed to analyse ERT IOPD. Thirteen Italian centres spread throughout country were involved cohort 28 patients (15 females, 13 males, born period: February 2002–January 2013) enrolled. IOPD diagnosis based symptoms, enzymatic molecular analysis. All received within first year life. Clinical, laboratory, functional (motor, cardiac respiratory) collected followed for median period 71 months (5 years 11 months). Median age at onset, start 2, 3 4 months, respectively. CRIM 24/28 patients: 17/24 (71%) CRIM-positive. Nineteen (67%) survived > 2 years: 4 CRIM-negative, 14 one unknown. Six (5 unknown) never needed ventilation support (21,4%) seven (6 unknown: 25%) developed independent ambulation although subsequently lost this function. Brain imaging performed 6 showed peri-ventricular white matter abnormalities all them. Clinical follow-up confirmed better prognosis patients, though slow, progressive worsening motor and/or respiratory functions detected 8 patients. These result longest reported so far outside trials. The obtained but time, inability current therapeutic approach reverse or stabilize disease progression. results also evidenced involvement central nervous system disease. To understand improve efficacy larger studies as well development new approaches.