Effects of Enzyme Replacement Therapy on the Respiratory and Motor Functions Among Patients with Late-Onset Pompe Disease for Long-Term

Background: Pompe is a congenital metabolic disorder and muscles involvement that is the most common presentation of it. The late-onset Pompe disease (LOPD) is a type of Pompe according to the age of clinical presentation. In LOPD, the muscles of the trunk and proximal lower extremity have not normal function, and the repertory failure can be happening for these patients. Enzyme replacement therapy (ERT) is a new method for treatment of these patients, but the efficacy and safety of this method are challenging for long-term so that in this pilot study efficacy and safety were evaluated for two years. Methods: In this prospective study, the patients with LOPD included this study, and they received rhGAA every two weeks for two years. In this period the motor and respiratory function of them were evaluated, and the serology makers such as CPK and LDH were measured every six months. This study was registered as a trial with ID: IRCT2017111120981N2 and approved by the ethics committee of Tehran medical sciences branch, Islamic Azad University. Results: Two adults who were suffering LOPD for 17 and 12 years were investigated in this study. Both of them did not show any side event also the motor function of them had better, and one of them can be walked for more distance, on the other hand, the respiratory function was slightly improved and the CPK levels dramatically reduced. Conclusion: The results of this study showed the ERT was safe and effective for treatment or control the disease activity of patients with LOPD and help them, but this method is so expensive special for long- term. This is a small pilot study and needs more investigation for efficacy and safety of ERT or other available methods.