title: Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia.
abstract: Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discuss the ethical and economic considerations, regarding both direct and indirect costs, of a high-cost orphan disease in a marginalised minority population in a developing country.
authors.affiliation: Clinical Epidemiology and Biostatistics, Pontificia Universidad Javeriana, Bogota, Colombia. diego.rosselli@gmail.com
authors.forename: Diego
authors.initials: D
authors.lastname: Rosselli
authors.forename: Juan-David
authors.initials: JD
authors.lastname: Rueda
authors.forename: Martha
authors.initials: M
authors.lastname: Solano
mesh_terms: D003105:Colombia; D006233:Persons with Disabilities; D056947:Enzyme Replacement Therapy / Q000191:economics; D005006:Ethnicity; D006801:Humans; D008913:Minority Groups; D009087:Mucopolysaccharidosis VI / Q000188:drug therapy / Q000191:economics* / Q000201:enzymology / Q000208:ethnology; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000008:administration & dosage*; D035583:Rare Diseases / Q000191:economics* / Q000208:ethnology
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase