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Policy Principles for Value Assessment of Rare Disease Treatments

Policy Principles for Value Assessment of Rare Disease Treatments

Value assessment or Health Technology Assessment (HTA) is often used to inform pricing and reimbursement decisions. The type of evaluation may range from an assessment of added therapeutic benefit to one which includes a variety of additional elements such as cost-effectiveness analyses, assessment of unmet need and budget impact.  Standard assessment processes frequently fail to take account of the unique characteristics of innovative therapies for rare diseases.  As a consequence, many patients with rare diseases, who are eligible for treatment within a licensed indication, are denied access to treatment or access is delayed.

Some countries have chosen to exempt drugs for rare diseases from standard value assessments.  However, others, such as Germany and the UK, have introduced dedicated assessment processes for orphan drugs or rare diseases.

Conducting clinical trials in patient populations with rare diseases is challenging for many reasons:

  • Low awareness of the condition and lack of established diagnostic tests hinders patient identification;
  • Knowledge of disease natural history and its progression is often limited;
  • Lack of consensus on relevant trial endpoints and often few precedents to follow; 
  • Rare diseases frequently affect particularly vulnerable groups such as children and those with serious conditions where no established therapies exist;
  • Trial results are associated with much greater uncertainty due to small patient numbers.

As a consequence it is harder to generate the data necessary for a value assessment or HTA.

Rare disease treatments are further disadvantaged if incremental cost-effectiveness ratios (ICERs) are calculated.  ICERs generally exceed commonly accepted thresholds, defined for more prevalent conditions, due to the relatively high incremental costs combined with greater uncertainty around the ICER estimate.

Orphan drug legislation has been successful in stimulating the development of innovative treatments for rare diseases.  Any subsequent value assessment framework should not act as a disincentive to development but should instead recognise the challenges associated with developing treatments for rare diseases. 

For all the above reasons, Shire does not believe that HTA should be applied to rare disease treatments. Instead, Shire advocates that stakeholders work together to find innovative solutions to provide early patient access while simultaneously addressing any additional evidence needs.  However, where a subsequent value assessment, or HTA, is to be applied to a rare disease treatment, then a tailored approach is required, which takes into account the following principles:

Timely Access

Access for all rare disease patients should be the priority

  • All patients with rare diseases, eligible for treatment, should have the same chance of gaining access to care as those with more common diseases.
  • Access prior to marketing authorisation should be considered for treatment of serious conditions with high unmet needs.
  • Value assessment or HTAs of orphan drugs should not delay access to new treatments.
  • Where there is uncertainty, direct dialogue between all stakeholders should explore solutions for early access funding, including data collection, to build the real world evidence necessary for a later value assessment.

Expert Involvement

Rare disease expertise should be integral to the value assessment process

  • HTA decision makers should be experienced in the appraisal of rare disease treatments.
  • Consistent processes should be implemented to engage with patients or carers, health care professionals and manufacturers to obtain their views and input throughout the process.

Inclusive Evidence Base

All types of evidence should be included 

  • All available relevant data sources including randomised and non-randomised controlled trials, real-world evidence and qualitative information should inform the decision making.
  • Patient, carer and clinician perspectives should be included.

Broad Perspective

Value assessment should incorporate multiple criteria

  • The assessment should include the impact of the treatment beyond the direct health benefit to the patient i.e. on carers, the health care systems, social services and society.  
  • Evidence should be appraised in the context of an understanding of the unmet needs, disease burden and severity, rarity of the condition, ethical considerations and the degree of treatment innovation.
  • Where they are offered, the added value of manufacturer’s patient and nursing services, case management and other benefits designed to serve the community affected by a specific rare disease should be recognised.

Flexible Approach

Greater uncertainty in the evidence, at the time of launch, should be accepted

  • The assessment of evidence quantity and robustness must allow for the challenges of conducting research in populations with rare diseases.
  • Where head-to-head comparative data are not available, all sources of evidence should be used to estimate treatment benefit.
  • Surrogate endpoints should be used to extrapolate clinical benefit when capturing longer term outcomes in the registration trials is not feasible.
  • The use of commonly accepted ICER thresholds, defined for more prevalent conditions, should not be the central criterion for determining access to treatment.

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