Task Force 1 – “Bridging Diagnostics to Therapies and Care”
The Diagnostic Scientific Committee (DSC), Interdisciplinary Scientific Committee (ISC), and Therapies Scientific Committee (TSC) are jointly establishing a Task Force on “Bridging Diagnostics to Therapies and Care” with the following objectives:
- Create a list of critical elements required for the transition from diagnosis to therapy, including barriers, opportunities, and recommendations for implementation.
- Create a roadmap of tasks required to identify and implement existing therapies.
- Create a roadmap, incorporating existing projects, of strategies to engage in new therapy identification and development
- Publish a manuscript in a peer-reviewed journal describing findings, promoting roadmaps, identifying existing gaps and recommending research priorities.
Call for experts to support the IRDiRC Task Force “Bridging Diagnostics to Therapies and Care”
Task Force 2 – “International Regulatory Convergence”
The Funders Constituent Committee (FCC), the Companies Constituent Committee (CCC) and the Regulatory Scientific Committee (RSC) are establishing a Task Force on International Regulatory Convergence aiming to identify barriers towards mutual recognition of the approval of rare disease therapies by different jurisdictions and propose concrete solutions. The Task Force will follow a disease agnostic approach and focus on early stage development for Advanced Therapy Medicinal Products, in particular cell and gene therapies. Keeping in mind the differences across jurisdictions, the Task Force proposes to assess how convergence could be facilitated with the aim to accelerate therapeutic development and approval of medicines for rare diseases across the globe.
Call for experts to support the IRDiRC Task Force on Regulatory Convergence
Task Force 3 – “Stigma and rare diseases”
The Interdisciplinary Scientific Committee (ISC) and Patient Advocacy Constituent Committee (PACC) are establishing a Task Force on “Stigma and rare diseases”.
Globally more than 300 million people are living with a rare disease (PLWRD). For many, stigma is a critical health and social barrier with a high unmet need, that is estimated to be an overtly expressed challenge by approximately 1 in 3 PLWRD. Patients experiencing stigma face inequality, marginalization, discrimination, and exclusion which impairs access to healthcare, social and community participation and integration. In most cases, stigma prevents the start or progress of rare disease diagnostic, therapeutic and care odysseys. Several factors have been reported by PLWRD to be directly linked to a lower quality of life: physical, mental, social. This Task Force aims to articulate the particular facets of stigma and benefit from the learnings from other domains in which stigma has been a centered focus of attention in the past, such as HIV and birth defects.
Call for experts to support the IRDiRC Task Force on Stigma
Working Group – “Engagement of Young People Living with Rare Diseases in Therapy Development”
The Therapies Scientific Committee (TSC) is establishing a Working Group on the Engagement of Young People Living with Rare Diseases in Therapy Development.
The aim of the working group is to develop a landscape view of the field and create practical tools such a decision tree to help inform stakeholders involved in pediatric rare diseases research and therapies development.
Engaging young people in research is essential for advancing therapies for rare diseases by involving them in the design, execution and real-world application of studies. Despite global initiatives supporting youth involvement, there is a lack of clear and harmonized guidance on how to effectively engage young people in rare disease research.
The main objective is to understand and map out the different patient engagement activities and tools in therapy development categorized by specific age groups (e.g., early childhood, middle childhood, adolescents and young people that have transitioned to adult care); and identify opportunities to advance the field, address existing gaps, and propose solutions to improve patient outcomes.
Task Force 4 – “Preventive Medicines“
The Therapies Scientific Committee (TSC) is establishing a Task Force on Preventive Medicines, where drug activity can either halt or suppress the onset of disease symptoms or the condition itself. Across different stakeholders, there is a growing consensus that prevention must become a more significant part of health policy and pharmaceutical development programmes. The aim of the Task Force is to create enhanced opportunities for the development of and access to Preventive Medicines at scale for rare diseases. For prevention to be successful there needs to be early and robust diagnosis that can be linked to the administration of a biologically plausible intervention.
The Task Force proposes to map the current pathway(s) and create recommendations that recognise and manage the additional uncertainties of earlier intervention and small population research. New development, approval and reimbursement mechanisms could be implemented to accept the earlier diagnostic paradigm, with the broader use of synthetic data, surrogate marker endpoints and long-term real-world monitoring.
Call for experts to support the IRDiRC Task Force on Preventive Medicines
