Healthcare Resource Utilization and the Cost of Care for Mucopolysaccharidosis I Patients in Iran.

BACKGROUND: Mucopolysaccharidosis I (MPS-I) is one of the most common types of MPS and lysosomal storage diseases, which impose considerable amount of economic burden on society. OBJECTIVES: The aim of this study was to examine the cost drivers in the treatment of MPS-I patients in Iran. METHODS: This is a cost-analysis study. The prevalence approach was used to evaluate costs from the healthcare payer's perspective. The number of patients found to have α-L-iduronidase deficiency was identified using the national registry database of the Ministry of Health (MOH). The direct medical costs of the patients were evaluated. Prescriptions; medical interventions; inpatient, outpatient, and diagnostic services, and also their costs were extracted from the patient's profiles in Iran Food and Drug Administration (IFDA). The prices of the medical services were taken out from Iranian medical tariff book 2014-15. Data extraction was performed from January 2017 to March 2018. RESULTS: Sixty-six patients were registered as MPS-I in MOH databases. The average annual healthcare cost for every patient was $87 971.99, 96.9% of which was allocated to medication therapy. Therapeutic and diagnostic services costs (2.4% and 0.7% correspondingly) were ranked second and third, respectively, but with huge differences in medication cost. CONCLUSIONS: The average annual cost of treatment for MPS-I patients is as high as 16.2 times the GDP per capita in Iran. The highest share of the cost belongs to medication. Selecting appropriate strategies for reducing the birth of a child with MPS could support allocative efficiency of the limited resources effectively.

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.

BACKGROUND: Severe mucopolysaccharidosis type I (also known as Hurler syndrome) is a rare devasting recessive genetic disease caused by the deficiency of an enzyme. Hematopoietic stem cell transplant is the standard of care in the United States, usually conducted before the child is 3 years of age, but little is known about the continued medical and educational needs of the child after transplant. A greater understanding of the burden of illness on the primary caregiver is also needed. Therefore, this online survey sought to gather information on the burden of severe MPS I in the United States at least 1 year after transplant. RESULTS: Thirty-two respondents reported that children with severe MPS I have significant medical and educational needs after transplant. Healthcare resource use was frequent, especially in the outpatient setting specifically for bone, cardiac, and vision complications that were not relieved by HSCT. Twenty-five percent of the children had been hospitalized at least once in the last year and two had been hospitalized twice. The most common reasons for overnight hospitalizations included orthopedic surgeries and respiratory infections. Among children ages 5 and older, only 3 of 28 (11%) were able to attend school with no special support. While caregivers were generally satisfied with the healthcare services their child receives, 69% of working caregivers reported negative impact on their ability to conduct work tasks, and 54% of caregivers did not work so that they could care for the child. CONCLUSIONS: Results suggest that severe MPS I children continue to  require medical care and special support for education. Future research on the burden of illness on families affected by severe MPS I is needed to better understand total cost of care, and to identify therapies and interventions that reduce burden of illness. Future studies that compare cost of and access to health care in different countries may provide a more global view of the burden of MPS I.

[Shift of focus in the financing of Hungarian drugs. Reimbursement for orphan drugs for treating rare diseases: financing of enzyme replacement therapy in Hungary]. / Hangsúlyeltolódások a hazai gyógyszerek finanszírozásában. A ritka betegségek kezelésére szolgáló árva gyógyszerek támogatása. Enzimpótló kezelések finanszírozása hazánkban.

Focusing on the benefits of patients with rare disease the authors analysed the aspects of orphan medicines financed in the frame of the Hungarian social insurance system in 2012 in order to make the consumption more rational, transparent and predictable. Most of the orphan drugs were financed in the frame of compassionate use by the reimbursement system. Consequently, a great deal of crucial problems occurred in relation to the unconventional subsidized method, especially in the case of the highest cost enzyme replacement therapies. On the base of the findings, proposals of the authors are presented for access to orphan drugs, fitting to the specific professional, economical and ethical aspects of this unique field of the health care system. The primary goal is to provide a suitable subsidized method for the treatment of rare disease patients with unmet medical needs. The financial modification of orphans became indispensible in Hungary. Professionals from numerous fields dealing with rare disease patients' care expressed agreement on the issue. Transforming the orphan medicines' financial structure has been initiated according to internationally shared principles.

Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.

BACKGROUND/AIMS: 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.

[High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders]. / Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas.

This paper approaches in a critical way aspects of Brazilian public policies for drugs, emphasizing those classified as high cost and for rare diseases. The lysosomal storage diseases was taken as an example because of their rarity and the international trend for the development of new drugs for their treatment, all at high costs. Three lysosomal storage diseases were approached: Gaucher disease, Fabry disease and mucopolysaccharidosis type I. Gaucher disease has its treatment drug licensed in Brazil and guidelines for its use are established through a clinical protocol by the Ministry of Health. The others have their drug treatments registered in Brazil; however, no treatment guidelines for them have been developed by the government. The objective of the paper was to foster the discussion on the role of health technology assessment for high-cost drugs for rare diseases in Brazil, emphasizing the need for establishing health policies with legitimacy towards these diseases. Despite the difficulties in establishing a health policy for each rare disease, it is possible to create rational models to deal with this growing challenge.

Medicamentos de alto custo para doenças raras no Brasil: o exemplo das doenças lisossômicas / High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders

Este artigo aborda, de forma crítica, aspectos das políticas públicas brasileiras para medicamentos, com ênfase nos de alto custo dirigidos às doenças raras. As doenças lisossômicas foram utilizadas como exemplo pela sua raridade e pela tendência mundial para o desenvolvimento de novos fármacos para seu tratamento. Três doenças foram abordadas: doença de Gaucher, doença de Fabry e mucopolissacaridose tipo I. Embora todas tenham medicamentos registrados no Brasil, a doença de Gaucher é a única com protocolo clínico e diretrizes de tratamento balizadas pelo Ministério da Saúde. Os autores almejam, com este artigo, fomentar a discussão sobre o papel da avaliação de tecnologias em saúde para o tratamento das doenças raras no Brasil, enfatizando a necessidade de políticas legitimadas dirigidas especialmente a elas. A despeito das dificuldades de se estabelecer uma política de saúde específica para cada doença rara, é possível o estabelecimento de modelos racionais para lidar com esse crescente desafio.

This paper approaches in a critical way aspects of Brazilian public policies for drugs, emphasizing those classified as high cost and for rare diseases. The lysosomal storage diseases was taken as an example because of their rarity and the international trend for the development of new drugs for their treatment, all at high costs. Three lysosomal storage diseases were approached: Gaucher disease, Fabry disease and mucopolysaccharidosis type I. Gaucher disease has its treatment drug licensed in Brazil and guidelines for its use are established through a clinical protocol by the Ministry of Health. The others have their drug treatments registered in Brazil; however, no treatment guidelines for them have been developed by the government. The objective of the paper was to foster the discussion on the role of health technology assessment for high-cost drugs for rare diseases in Brazil, emphasizing the need for establishing health policies with legitimacy towards these diseases. Despite the difficulties in establishing a health policy for each rare disease, it is possible to create rational models to deal with this growing challenge.