Rare Diseases


Dissemination, Discussion and Development of Initiatives that Could Support HTA of Rare Disease Technologies (RDTs)

The aim of this project is to identify and disseminate relevant proposals, guidance, and processes to support knowledge mobilisation across jurisdictions and among stakeholder groups in the HTA community. More specifically, this project will identify relevant information that could inform the HTA of RDTs, creating a library with links to relevant initiatives. Important items will be repackaged to support knowledge translation through a variety of approaches and disseminated to relevant sectors of the HTA community

Characterizing the issues about rare diseases that make HTA difficult and defining a roadmap on ways forward

The aim of this project is to characterize the issues with rare diseases and implications for HTA, and propose solutions to overcome them. More specifically, this project will leverage existing literature and knowledge on issues and augment them with examples and experiences from the multistakeholder expert group (the RDIG). Further, the project will prioritize key issues and derive tangible and implementable recommendations via multi-stakeholder expert consensus.


New paradigms for evidence generation and interpretation of rare diseases, including relevant value assessment frameworks

Since it began in 2005, PCIG has developed a reputation for providing practical products to meet the needs of those working in patient involvement in HTA. These projects haves been characterised by an inclusive approach which recognises the value of robust evidence, multi-stakeholder expertise and wide consultation.

There are no set criteria for project proposals. The key requirement is to identify a need related to patient involvement in HTA and then put together a sub-committee to scope and complete the project with appropriate oversight from the Steering Committee and consultation with the wider Interest Group. The projects can be short or long and with large or small goals. Typically, PCIG projects address areas such as developing involvement and educational materials and processes, exploring methodological issues, developing resources and tools which can be used or adapted by others.

The PCIG Steering Committee will approve up to eight projects at any one time. Each Project Sub-Committee shall have a lead and up to 12 members. Members of Project Sub-Committees must be members of PCIG and Project Sub-Committees must provide quarterly reports to the Steering Committee for publication on the website.

For more information, contact the PCIG Project Coordinator, Anke-Peggy Holtorf, email: [email protected].

Economic Methods for Rare Diseases

This project aims to review methodological challenges of rare and ultra-rare diseases and identify specific approaches that may be applicable in the context of economic modelling methods used to assess treatments for rare diseases. In addition, this project aims to understand what HTA bodies consider to be the main challenges (and potential solutions) and how they are currently being addressed.

Patient Involvement in Rare Diseases

This project will address the specific considerations for involving patients and their carers in HTA processes.

Resources and Materials

Held during the HTAi 2023 Annual Meeting in Adelaide, Australia, the panel session titled “Rare Disorders – Is the Lack of Effect in a Patient-Reported Outcome, Reflecting no Benefit?” reviewed the importance of measuring quality of life in rare diseases, and the potential and challenges of using patient-reported outcomes (PROs).

In chronic, rare diseases, measuring the impact of the condition, and of treatments, on quality of life is important. But, measuring quality of life is difficult in these small populations, that have heterogenous presentations of disease and response to treatment and are often occur in young children. So, patient-centred research is needed to develop robust, specific measures of the impact of a specific condition (and a treatment) on patient, carers and families, including consideration of how digital technologies could continuously capture quality of life impacts. Dialogues are needed between Health Technology Developers and HTA bodies to discuss the rationale for choice of approach for measuring quality of life, any challenges in evaluation of outcomes, and complementary sources of evidence (such as patient-based evidence from qualitative research)

The report of the HTAi 2023 Panel on Use of PROs in Rare Diseases is available to view below, or via pdf here (file size 1 MB).

Held during the HTAi 2023 Annual Meeting in Adelaide, Australia, the panel session titled “Real World Evidence from Rare Disorders’ Registries: A Problem or Part of the Solution to Inform Decisions?” aimed to shed light on the critical role of real-world evidence (RWE) derived from registries focused on rare disorders.

Registries should ideally be owned by the disease community, subject to strict governance mechanisms, but taking account of the needs of all stakeholders, such as HTA bodies and Payers. For HTA, registries can inform understanding of disease prevalence, burden of illness, the patient journey, progression of disease and for longer term data collection in local clinical practice in an Outcomes-Based Managed Entry Agreement. For rare disorders, registries should be aligned across healthcare jurisdictions and whilst ensuring strict data governance, patient access to their own data and permissions for use in research must be ensured. HTA bodies are developing processes to evaluate the quality of registries to understand if they provide valid, reliable and relevant data for the specific context of an HTA question. This requires transparency about the registry construct, governance, data curation and methods for RWE generation.

The report of the HTAi 2023 Panel on RWE from Rare Disorders Registries is available to view below, or via pdf here (file size 1 MB).



  • Karen Facey,
  • Sheela Uphadyaya,
  • Alicia Granados

Technical Officer: Lea Wiedmann

Steering Committee:

Juan Antonio Blasco
Ramiro Gilardino
Heather Logan
Veronica Lopez Gousset
Farzana Makil
Dorota Zgodka


HTAi Bylaws 

RDIG Terms of Reference