Introduction
Provision of individualized care is a fundamental goal in the journey of a person with a longstanding medical condition. In rare diseases, therapeutic care encompasses a wide variety of potential options: pharmaceutical agents, nutritional therapy, genomic and cell therapies, medical devices, medical procedures, supportive therapy, education and many more. A considerable number of RD patients suffer from two or more distinct diseases, mandating adjustments of therapeutic approaches. Personalized outcomes and reliable monitoring for effect and safety are essential for personalized medicine. Taken all together, the need exists to link and accelerate diagnosis to targeted therapy and individualized care and establish a better understanding of this trajectory.
Objectives
- Create a list of critical elements required for the transition from diagnosis to therapy, including barriers, opportunities and recommendations for implementation;
- Exhaust opportunities to connect newly diagnosed individuals to existing therapies, both approved and on a research basis (SoC procedures/disease management guidelines; approved, experimental, compassionate use or off-label therapy; towards self-management; psychological support; educational, disability, social and work support);
- Prioritization of case-specific tasks needed to instate available therapies;
- Prioritization work needed to bridge existing gaps between newly diagnoses and effective therapy or research.
Timeline
Recruitment and assembly of Task Force members (Q1, 2025)
Kickoff meeting (Q2, 2025)
Members
- Clara van Karnebeek – Amsterdam UMC, Netherlands (Co-Chair)
- Anneliene Jonker – University of Twente/ Duchenne Parent Project, Netherlands (Co-Chair)
- Bojana Mirosavljevic – ICON Center for Rare Diseases, Serbia
- Claudia Gonzaga-Jauregui – National Autonomous University of Mexico, Mexico
- Daniel O’Connor – The Association of the British Pharmaceutical Industry (ABPI), UK
- Eda Selebatso – Botswana Organisation for Rare Diseases (BORDIS), Botswana
- Guillem Pintos-Morell – Vall d’Hebron Research Institute, Spain
- Helena Gens – Roche, Switzerland
- Holm Graessner – Centre for Rare Diseases Tubingen, Germany
- Lisa Emrick – Baylor College of Medicine, USA
- Marcos Mosteirin – Qualix DoT, Argentina
- Noreen Sherazi – National Institute of Cardiovascular Diseases, Pakistan
- Rachel Forcino – University of Kansas School of Medicine, USA
- Sergi Beltran-Agullo – CNAG, Spain
- Tudor Groza – Bioinformatics Institute, A*STAR, Australia