Details

Autor(en) / Beteiligte

• Hendriksz, Christian J.
• Giugliani, Roberto
• Harmatz, Paul
• Lampe, Christina
• Martins, Ana Maria
• Pastores, Gregory M.
• Steiner, Robert D.
• Leão Teles, Elisa
• Valayannopoulos, Vassili

Titel

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

Ist Teil von

• Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.373-384

Ort / Verlag

Dordrecht: Springer Netherlands

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• Objective To outline the design, baseline data, and 5-year follow-up data of patients with mucopolysaccharidosis (MPS) VI enrolled in the Clinical Surveillance Program (CSP), a voluntary, multinational, observational program. Methods The MPS VI CSP was opened in 2005 to collect, for at least 15 years, observational data from standard clinical and laboratory assessments of patients with MPS VI. Baseline and follow-up data are documented by participating physicians in electronic case report forms. Results Between September 2005 and March 2010 the CSP enrolled 132 patients, including 123 who received enzyme replacement therapy (ERT) with galsulfase. Median age at enrolment was 13 years (range 1–59). Mean baseline data showed impaired growth, hepatosplenomegaly, and reduced endurance and pulmonary function. The most common findings were heart valve disease (90%), reduced visual acuity (79%), impaired hearing (59%), and hepatosplenomegaly (54%). Follow-up data up to 5 years in patients with pre- and post-ERT measurements showed a decrease in urinary glycosaminoglycans and increases in height and weight in patients <16 years and suggested reductions in liver and spleen size and improvements in endurance and pulmonary function after ERT was started. Vision, hearing, and cardiac function were unchanged. Safety data were in line with previous reports. Conclusions The CSP represents the largest cross-sectional study of MPS VI to date. This first report provides information on the design and implementation of the program and population statistics for several clinical variables in patients with MPS VI. Data collected over 5 years suggest that ERT provides clinical benefit and is well-tolerated with no new safety concerns.