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

• DOI: 10.1007/s10545-011-9410-9
• Publication Date: 2011-11-30T04:31:50Z
• Authors: Christian J. Hend...; Roberto Giugliani; Paul Harmatz; Christina Lampe; Ana Maria Martins; Gregory M. Pastores; Robert D. Steiner; Elisa Leão Teles; Vassili Valayanno...
• Keywords: Adult; Male; 2716 Genetics (clinical); Adolescent; N-Acetylgalactosamine-4-Sulfatase; 610 Medicine & health; Young Adult; 03 medical and health sciences; 0302 clinical medicine; 1311 Genetics; Humans; Enzyme Replacement Therapy; Child; Mucopolysaccharidosis VI; Infant; Middle Aged; Recombinant Proteins; 3. Good health; Cross-Sectional Studies; Treatment Outcome; 10036 Medical Clinic; Child, Preschool; Female; Follow-Up Studies

AbstractObjectiveTo 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.MethodsThe 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.ResultsBetween 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.ConclusionsThe 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.