Rare Diseases

Knowledge Mobilization of Initiatives that Could Support HTA of Rare Disease Technologies (RDTs)

The aim of this project is to mobilize knowledge that could improve HTA of RDTs. It will ensure dissemination of information from initiatives working in RD evidence generation and HTA; organise discussion about new reports/initiatives that might be relevant to HTA of RDTs; repackage published materials related to RD HTA to develop them into a more useable format for the international 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 multi-stakeholder 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

New paradigms for evidence generation and interpretation that takes into account of the complexity of rare diseases.

This project is planned to be focused on understanding of both aspects of the evidence generation and interpretation, in the context of the rare diseases complexity, and will look for convergence in the evidence assessment framework used by assessors of evidence. The aim is to provide an understanding on what evidence is required and accepted by HTA agencies for rare diseases technologies/RDTs (promising medicines, diagnostic innovations). It will develop insights on current practices and use of evidence assessment framework(s) (e.g. GRADE) and propose adaptation of more fit for purpose evidence assessment framework for RDTs. The aim is to provide awareness on what evidence packages need to be considered by HTA assessors globally and develop premises for new evidence assessment paradigms for RDTs.

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.

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.

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.