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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.
Nat Rev Drug Discov
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. In this Review, we outline the concept of N-of-1 individualized therapies, focusing on genetic therapies, and illustrate advances and challenges in the field using cases for which therapies have been successfully developed.
View Article and Find Full Text PDFLessons learned from the RE(ACT) conference on medical devices for rare diseases.
Eur J Med Genet
December 2024
University Hospitals, Leuven, Belgium.
Article Synopsis
- The growth of rare disease therapeutics is leading to various innovative treatment options, including orphan medicinal products, medical devices, rehabilitative therapies, and digital therapeutics, all addressing unique patient needs.
- The paper discusses insights from the RE(ACT)-IRDiRC Conference 2023, focusing on orphan medical device development, the associated challenges, and the opportunities presented in this expanding field.
- Examples of groundbreaking devices include an exoskeleton for Duchenne Muscular Dystrophy and a seizure-detecting EEG device, both emphasizing the importance of patient-centric design and the need for increased support in research for rare disease therapies.
How to START? Four pillars to optimally begin your orphan drug development.
Orphanet J Rare Dis
August 2023
IRDiRC, Paris, France.
Drug development is a complex, resource intensive and long process in any disease area, and developing medicines to treat rare diseases presents even more challenges due to the small patient populations, often limited disease knowledge, heterogeneous clinical manifestations, and disease progression. However, common to all drug development programs is the need to gather as much information as possible on both the disease and the patients' needs ahead of the development path definition. Here, we propose a checklist named START, a tool that provides an overview of the key pillars to be considered when starting an orphan drug development: STakeholder mapping, Available information on the disease, Resources, and Target patient value profile.
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