title: Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong.
abstract: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a very rare inherited lysosomal storage disease. We evaluated the efficacy and safety of weekly infusions of recombinant human arylsulfatase B as enzyme replacement therapy for two patients in whom this condition was advanced. The primary outcome variables were the distance walked in a 6-minute walk test, forced vital capacity, and ejection fraction. The secondary outcome variables were the number of stairs climbed in a 3-minute stair climbing test, joint mobility, urinary glycosaminoglycan excretion, auto-continuous positive airway pressure study and liver size. After 24 weeks of treatment, patient A walked 40 m (36%) and patient B walked 66 m (58%) more in the walk test than at baseline. After 48 weeks, in patient A the corresponding improvements were 142 m (129%) in the walk test and 33 stairs (60%) in the 3-minute stair climbing test, and in patient B the respective improvements were 198 m (174%) and 77 stairs (140%). There was a significant decline in urinary glycosaminoglycan excretion and improvement in range of motion of joints in both patients. The auto-continuous positive airway pressure study revealed improvements in patient A, while other efficacy variables remained static. There were no drug-related adverse events or allergic reactions reported during and after the infusions of recombinant human arylsulfatase B. Recombinant human arylsulfatase B significantly improves endurance and reduces urinary glycosaminoglycan excretion. The drug is generally safe and well tolerated.
authors.affiliation: Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong. butwm@ha.org.hk
authors.forename: W M
authors.initials: WM
authors.lastname: But
authors.forename: M Y
authors.initials: MY
authors.lastname: Wong
authors.forename: J C K
authors.initials: JC
authors.lastname: Chow
authors.forename: W K Y
authors.initials: WK
authors.lastname: Chan
authors.forename: W T
authors.initials: WT
authors.lastname: Ko
authors.forename: S P
authors.initials: SP
authors.lastname: Wu
authors.forename: M L
authors.initials: ML
authors.lastname: Wong
authors.forename: T Y
authors.initials: TY
authors.lastname: Miu
authors.forename: W Y
authors.initials: WY
authors.lastname: Tse
authors.forename: W W Y
authors.initials: WW
authors.lastname: Hung
authors.forename: T W
authors.initials: TW
authors.lastname: Fan
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
mesh_terms: D000293:Adolescent; D056947:Enzyme Replacement Therapy; D005541:Forced Expiratory Volume; D006025:Glycosaminoglycans / Q000652:urine; D006723:Hong Kong; D006801:Humans; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000188:drug therapy* / Q000503:physiopathology; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use*; D011446:Prospective Studies; D011994:Recombinant Proteins / Q000627:therapeutic use; D014797:Vital Capacity
chemical_list: D006025:Glycosaminoglycans; D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase