Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
OBJECTIVE
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder treated with bone marrow transplantation or enzyme replacement therapy with laronidase, a high-cost orphan drug. Laronidase was approved by the US Food and Drug Administration and the European Medicines Agency in 2003 and by the Brazilian National Health Surveillance Agency in 2005. Many Brazilian MPS I patients have been receiving laronidase despite the absence of a governmental policy regulating access to the drug. Epidemiological and treatment data concerning MPS I are scarce. This study aims to present a demographic profile of Brazilian patients with MPS I, describe the routes of access to laronidase in Brazil, and discuss associated ethical issues relating to public funding of orphan drugs.


METHODS
In this cross-sectional observational study, data were collected nationwide between January and September 2008 from physicians, public institutions and non-governmental organisations involved with diagnosis and treatment of MPS I, using two data collection instruments specifically designed for this purpose.


RESULTS
The minimum prevalence of MPS I in Brazil was estimated at 1/2,700,000. Most patients (69.8%) were younger than 15 years; 60 (88.2%) received laronidase. The most common route of access to the drug was through lawsuits (86.6%).


CONCLUSIONS
In Brazil, MPS I is predominantly a paediatric illness. Even though the cost of laronidase treatment is not officially covered by the Brazilian government, most MPS I patients receive the drug, usually through litigation. This gives rise to major ethical conflicts concerning drug access in a low-resource context. The Brazilian health policy framework lacks evidence-based clinical protocols for the distribution of orphan drugs.
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, CEP 90035-003, Porto Alegre, RS, Brazil.
Raquel
R
Boy
Ida V D
IV
Schwartz
Bárbara C
BC
Krug
Luiz C
LC
Santana-da-Silva
Carlos E
CE
Steiner
Angelina X
AX
Acosta
Erlane M
EM
Ribeiro
Marcial F
MF
Galera
Paulo G C
PG
Leivas
Marlene
M
Braz
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000369:Aged, 80 and over; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D016527:Drug Costs / Q000941:ethics / Q000331:legislation & jurisprudence*; D005260:Female; D006291:Health Policy / Q000191:economics; D006801:Humans; D007068:Iduronidase / Q000191:economics / Q000600:supply & distribution / Q000627:therapeutic use*; D007223:Infant; D008297:Male; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000188:drug therapy* / Q000191:economics; D009965:Orphan Drug Production / Q000191:economics* / Q000941:ethics / Q000331:legislation & jurisprudence; D055815:Young Adult
D007068:Iduronidase