Health Technology Assessment (HTA) of Rare Disease Treatments Working Group
Mondher Toumi MD, MSc, PhD
Professor & Chair of Decision Sciences, Department of Public Health and Market Access
University Claude Bernard Lyon I
Lyon, France
Sandra Nestler-Parr, PhD, Mphil
Head of Rare Diseases
Roboleo & Co
London, England, UK
Leadership Group: TBD

To systematically review the HTA landscape for the adoption of specific orphan drug pathways, analyze which criteria drive HTA decisions of orphan drugs and identify current best practice and trends in orphan drug HTA.


Since orphan drug legislation was introduced in many global regions, the number of market authorizations for orphan drugs is growing continuously, and therapeutic options for patients suffering from rare conditions are increasing. Although it is widely recognized that criteria beyond cost-effectiveness should be taken into account in the HTA of orphan drugs, most HTA agencies do not currently employ specific, well-defined appraisal policies for rare disease therapies.

Many jurisdictions do not have formal HTA policies. Furthermore, not all jurisdictions that conduct HTAs publish their recommendations or the details relating to criteria that contributed to the final appraisal decisions.

Work Product:

A manuscript for publication in Value in Health.

The working group study will review HTA decisions for all orphan products that: 1) received EMA and FDA marketing authorization from 2009 to 2013 and 2) have undergone an HTA in at least two jurisdictions that meet the selection criteria of the geographical scope for this research.

The geographical scope will include jurisdictions globally that conduct formal HTAs and publish reports of their reimbursement recommendations. The working group will analyse and compare those HTA processes, decision criteria and reimbursement recommendations for orphan drugs and jurisdictions that are within the scope of the study. The results will form the basis for good practice recommendations for orphan drug HTA.


Rare Disease Special Interest Group: HTA of Rare Disease Open Meeting
November 2015 – 18th Annual European Congress, Open Meeting presentation, Milan, Italy

The co-authors of the Challenges in Assessment and Appraisal of Rare Disease Diagnostics & Treatments Working Group will present their final manuscript. The co-chairs of the HTA of Rare Disease Treatments Working Group will introduce their new project and lead the open meeting.


To join this SIG Working Group, see: Join a Special Interest Group.

Rare Disease SIG | Special Interest Groups Index