Rare Disease Day: raising awareness and improving patients’ quality of life

On this particular date, Mapi Research Trust would like to highlight some initiatives aimed at improving the quality of life for people affected by rare diseases and at making their voices heard in clinical research and practice.

Partnership with Orphanet-INSERM and European grant with the European Rare disease research Coordination and support Action (ERICA) consortium

In 2020, Mapi Research Trust and Orphanet-INSERM (a portal for rare diseases and orphan drugs) received the approval for a 4-year European grant from the European Rare disease research Coordination and support Action (ERICA) consortium. The European grant supports Mapi Research Trust’s and Orphanet-INSERM’s joint effort to identify the functional consequences of rare diseases and match them with suitable Clinical Outcome Assessment (COA) measures.

This partnership led to the creation of a central COA repository and it constitutes a major milestone in the Europe-wide standardization of COAs for rare diseases.

Facilitating access to Patient-Reported Outcomes and other COAs specifically developed for various rare diseases

Rare diseases have long been a major consideration for Mapi Research Trust, and this is reflected in our ePROVIDE™ COA platform. Today, rare diseases in ePROVIDE™ represent:

• 600 COAs in rare diseases accessible in the PROQOLID™ COA database
• 100 COAs in rare diseases distributed by Mapi Research Trust on behalf of their developers and copyright owners, allowing for a streamlined licensing process
• 350 drugs in rare diseases including COA claims approved by FDA and EMA, described in the PROLABELS™ database
• 25 regulatory guidelines on COA use in rare disease clinical trials, available in the PROINSIGHT™ database

These figures are constantly growing, thanks to our COA experts’ constant watch for new recommendations and guidance on all COA-related subjects and on rare disease. For example, ePROVIDE™ includes the latest FDA guidance on rare disease “Rare Diseases: Considerations for the Development of Drugs and Biological Products”, released in December 2023.

Designing patient-centered endpoint strategy in rare diseases

Our Patient-Centered Endpoint intelligence (PACE) team of experts in targeted literature reviews has completed over 120 COA landscape analysis projects on various rare diseases such as rare hematologic disorders, rare forms of cancers, rare metabolic abnormalities, rare immune disorders and rare diseases with neurologic manifestations.

Here are a few examples of strategic requests addressed by the PACE team for rare diseases: systematic literature review of global impression items, in-depth description of COA instruments, claims and health authorities’ recommendations for certain COAs, review of use and validation of COAs…

To partner with us on a COA project in rare diseases, please visit ePROVIDE™ and submit a request.