We need a “made in Canada” orphan drug framework

McMillan, Hugh J.; Campbell, Craig

doi:10.1503/cmaj.170195

Cited by 7 publications

(7 citation statements)

References 7 publications

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“…Canadian patients with Morquio A syndrome face substantial barriers to accessing elosulfase alfa treatment because of the absence of an orphan drug plan in Canada and marked differences in approval processes across provinces [16]. Given the cost of orphan medications and possible pharmacogenetic effects in the Quebec population, data supporting clinical efficacy are critical.…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Moisan

Iannuzzi

Maranda

et al. 2020

Orphanet J Rare Dis

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Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered unique due to the presence of founder pathogenic variants. The objectives of this study were to document the genetic and clinical heterogeneity of patients with Morquio A in Quebec, to better characterize the phenotype of those with the French Canadian founder pathogenic variant (NM_000512.5: c.1171A>G, p.Met391Val), and to describe the natural history of the patients treated with elosulfase alfa enzyme replacement therapy. Patients with Morquio A were genotyped for pathogenic variants in the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. Clinical data were retrospectively collected from medical charts of patients and included medical history, height, physical examination, respiratory function tests, electrocardiogram, echocardiogram, endurance in the 6-min walk test (6MWT), and activities of daily living (ADL) as assessed by the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ). Longitudinal data were collected retrospectively and prospectively for patients treated with elosulfase alfa. Results A total of 33 patients, aged 5–63 years, were included in the analysis. Patients with the founder pathogenic variant (n = 17) generally exhibited a non-classical form of Morquio A. As compared with patients with a non-founder pathogenic variant (n = 16), these patients were generally taller, had greater endurance and were better able to perform ADL. However, they still had significant musculoskeletal disease. Most of the 26 patients treated with elosulfase alfa, regardless of pathogenic variant, showed improvements in endurance and ADL. After 5 to 12 months of treatment, the mean improvement from baseline in the 6MWT was 23% and 10 of 14 patients improved in at least one MPS-HAQ domain. Endurance and ADL generally continued to improve or maintained stable in the long term (up to 7 years). Four out of 19 treated patients with echocardiogram data at follow-up showed progression of cardiac disease. Conclusions In Quebec, Canada, Morquio A frequently manifests as a non-classical form of the syndrome due to a founder effect. Patients treated with elosulfase alfa generally show long-term improvement or stability in endurance and function, regardless of pathogenic variant.

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Section: Introductionmentioning

confidence: 99%

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Moisan

Iannuzzi

Maranda

et al. 2020

Orphanet J Rare Dis

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“…McMillan and Campbell believe that Canada needs a regulatory framework for the introduction of orphan drugs for rare disorders. 1 We agree. However, the need is unlikely to be met in the foreseeable future because, in October 2017, the present federal government deleted from the Health Canada website, without notice or consultation, all references to the previous government's 2012 Orphan Drug Regu latory Framework.…”

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confidence: 66%

Access to new drugs for rare disorders in Canada

Rawson

Adams²

2018

CMAJ

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“…The reports that we found indicate that Canada has no national plan or specific legislation on rare diseases (10,22), the Minister of Health put forward a draft for an orphan drug regulatory framework in 2012 (22,23). According to a previous report, this framework would rely on existing Canadian laws that regulate health products and food, including the regulation of labelling and packaging, clinical trials, and manufacturing and marketing of these products; however, this framework has yet to be implemented (24). Also, the Canadian Organization for Rare Disorders (CORD) has provided five strategic goals for a Canadian Rare Disease Strategy (23).…”

Section: Resultsmentioning

confidence: 99%

A compilation of national plans, policies and government actions for rare diseases in 23 countries

Khosla

Valdéz

2018

IRDR

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Previous studies have focused on the comparison of specific laws among multiple countries and regions; for example, laws related to facilitating treatments with orphan drugs or laws seeking to address the multiple needs of patients with rare diseases. The purpose of this scoping review is to examine and compare published reports on national plans, polices and legislation related to all rare diseases in different countries. We also examine strategies or programs that countries may have for these diseases. Articles were obtained from journals and books published between January 1, 2000, through December 15, 2017. Reports from the grey literature (documents issued by government and private organizations) were included if they were available on the internet. The databases used were Google and Google Scholar, PubMed, and the websites of Orphanet and the National Organization for Rare Disorders (NORD). We obtained information on 23 countries. Among these countries, the way in which rare diseases were defined varied from having similar definitions to no definition. Multinational programs supported by common or similar laws are likely to have a greater impact on rare diseases than single country programs.

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We need a “made in Canada” orphan drug framework

Cited by 7 publications

References 7 publications

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

Access to new drugs for rare disorders in Canada

A compilation of national plans, policies and government actions for rare diseases in 23 countries

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