Journal article

Publication year: 2019

Pages: 355-360

Journal: Molecular Genetics and Metabolism

Volume number: 127

Issue number: 4

ISSN: 1096-7192

eISSN: 1096-7206

Open access status: Hybrid

DOI Link: https://doi.org/10.1016/j.ymgme.2019.06.008

Publisher: Elsevier

Abstract: 

Objective: To evaluate the impact of galsulfase enzyme replacement therapy (ERT) when initiated in adulthood for patients with mucopolysaccharidosis (MPS) VI.

Methods: In 2005, the multi-national, MPS VI Clinical Surveillance Program (CSP) was established to collect long-term observational data from routine clinical and laboratory assessments. A sub-analysis was performed in patients who started ERT at >= 16 years of age and had received galsulfase for >= 6 months. Urinary glycosaminoglycans (uGAG), 6-min walk test (6MWT), 3-min stair climb test (3MSCT), pulmonary function measures, cardiac function, ophthalmology measures, liver and spleen sizes, and safety were evaluated.

Results: Of 223 patients enrolled in the CSP, 51 were included in the sub-analysis. Patients were between 16 and 63 years of age at first infusion. From pre-treatment baseline, uGAG level decreased by a mean (+/- standard deviation [SD]) of 66 (+/- 45)% (N = 29) after a median follow-up of 7.2 years. 6MWT distance decreased slightly by a mean of 17 (+/- 107) meters (N = 23) after 6.6 years. Stairs/min in the 3MSCT increased by a mean of 26 (+/- 33) (N = 14) after 2.8 years. Pulmonary function measures, forced expiratory volume in 1 second and forced vital capacity, increased by a mean of 0.06 (+/- 0.21) L after 7.3 years and 0.05 (+/- 0.28) L after 7.2 years, respectively (N = 19 for both measures). Overall, galsulfase was well tolerated, with most adverse events reported being MPS-related clinical manifestations and not related to galsulfase.

Conclusions: Results of this sub-analysis of the CSP suggest that initiation of galsulfase in adulthood is well tolerated and can possibly stabilize MPS VI in the long term.

Harvard Citation style: Lampe, C., Harmatz, P., Parini, R., Sharma, R., Teles, E., Johnson, J., et al. (2019) Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program, Molecular Genetics and Metabolism, 127(4), pp. 355-360. https://doi.org/10.1016/j.ymgme.2019.06.008

APA Citation style: Lampe, C., Harmatz, P., Parini, R., Sharma, R., Teles, E., Johnson, J., Sivam, D., & Sisic, Z. (2019). Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. Molecular Genetics and Metabolism. 127(4), 355-360. https://doi.org/10.1016/j.ymgme.2019.06.008