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Principles for Rare Disease Funding Policies

Principles for Rare Disease Funding Policies


Orphan drug legislation has been very successful in spurring the development of innovative therapies for rare diseases with high unmet need and few, if any, treatment options. Patients with rare, serious and life threatening conditions now have a realistic hope that a treatment may be developed.[1]  However, new treatments approved by regulators still fail to reach all of the patients for whom they are intended.

Although the total spend on orphan drugs represents a relatively small portion of healthcare budgets in the U.S. and EU,[2] increasingly health technology assessment agencies and payers are questioning the value of orphan treatments in relation to overall health system financing. As a result, there is a disparity in access to treatment, with approved orphan drugs being reimbursed in some countries but not in others.

Reimbursement barriers include:

  • low awareness and lack of knowledge about rare conditions
  • concern about the impact on the health budget of the cost of treatment for relatively few patients
  • health systems are challenged  to adapt to innovative health interventions

This situation is exacerbated in emerging economies where budget pressures are even higher.[3] In addition, access to rare disease treatment in developing countries is more difficult due to lack of funding for infrastructure, training and education, access to diagnostic testing, and other challenges. To address such issues, Shire has partnerships in place in low- and middle-income countries to build healthcare capacity and strengthen the health delivery system.[4]

Shire believes that funding for treatment should be available as early as possible for all eligible patients who have a condition with a high unmet need. A best practice example of effective early funding policies is France:  in France, temporary authorisations for use (ATU) allow patient access to treatments for rare diseases with a high unmet need and that meet ATU criteria, prior to marketing approval. It is possible to request an ATU for patient cohorts, enabling access and coverage for all eligible patients.[5] Germany’s reimbursement policy is a leading example of enabling timely access to treatment after market authorization: new products on the market, including orphan drugs, are reimbursed immediately after market authorization.[6]  These two policies are good examples of funding mechanisms that lead to equitable, early and timely access to rare disease treatment. In addition to these principles, Shire proposes the following rare disease funding policy principles below:

Policy Principles

Funding policies for rare disease diagnosis and treatment should be:

  • Equitable:
    • Patients with rare diseases should have the same chance of gaining access to care as those with more common diseases
    • Patients with rare diseases should have access consistent with the product’s label and clinical trial evidence, and not limited by fiscal or budgetary constraints
    • All eligible patients should be considered for treatment, not just those with independent financial means such as private insurance
  • Inclusive:
    • Involve rare disease experts, including patients, care givers and healthcare professionals, in decision making, to enhance understanding of rare disease burden and potential impact of funding decisions
  • Early:
    • Governments and payers proactively account for pipeline treatments in their healthcare budget planning (“horizon scanning”).
    • Treatment should be available as early as possible for patients who need it, for example through pre-regulatory access/ early access programs for patient cohorts
    • Timely access for all eligible patients to treatments as soon as the product is launched
  • Consistent:
    • Holistic government policy that connects research and development incentives with reimbursement and funding decision making for access to rare disease care
    • Comprehensive approach to support all patients throughout the care pathway from diagnosis through to treatment
  • Sustainable:
    • Where necessary, innovative access schemes should be considered to address uncertainties in the evidence base or the numbers of eligible patients
    • In emerging economies where the healthcare delivery system for rare disease treatment is less developed, industry partnerships can be a successful means to build healthcare capacity, as part of a pathway towards sustainable funding


  1. U.S. Food and Drug Administration, Developing Products for Rare Diseases and Conditions, Last accessed 15 June 2017; The European Medicines Agency, Orphan medicines in numbers: the success of ten years of orphan legislation, Press release issued 3 May 2010, Last accessed 15 June 2017
  2. Divino V et al. Orphan Drug Expenditures In The United States: A Historical And Prospective Analysis, 2007–18. HEALTH AFFAIRS 2016; 35(9): 1588–1594; Schey C et al. Estimating the budget impact of orphan medicines in Europe: 2010 - 2020. Orphanet Journal of Rare Diseases. 2011;6:62. doi:10.1186/1750-1172-6-62
  3. Shafie A., et al., “State of rare disease management in Southeast Asia,” Orphanet Journal of Rare Diseases (2016) 11:107, accessible at (Last accessed 3 August 2017)
  4. Shire Annual Report 2016, p.37, accessible at (Last accessed 3 August 2017)
  5. Website Ministère des Solidarités et de la Santé (Last accessed 3 August 2017); Tordrup, D. et al., "Orphan drug considerations in health technology assessment in eight European countries." Rare Diseases and Orphan Drugs July 2014, vol 1 nr 3 pp 83-97. Available at: (Last accessed 3 August 2017)
  6. Arzneimittelneuordnungsgezetz (AMNOG), Bundesgesetzblatt, Jahrgang 10, Teil I, Nr 67, accessible at (Last accessed 3 August 2017); Elhewaihi, M., “AMNOG Barriers and Prospects,” International Society for Pharmacoeconomics and Outcomes Research (2012) (Last accessed 3 August 2017)

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