Work

Applying the international rare disease research consortium (IRDiRC) N-of-1 therapy task force eligibility criteria for individualised therapies use case: Duchenne muscular dystrophy

Year: 2025

Type: article

Abstract: The nucleic acid therapy field is making progress in rare diseases, with multiple regulatory approved therapeutic modalities. As these therapeutic approaches are programmable, they also provide an opportunity for individualized therapy development. Indeed, currently over 30 individuals are being treated with such N-of-1 antisense oligonucleotides. The International Rare Disease Research Consortium (IRDiRC) Task Force of N-of-1 treatments published a roadmap to outline the different steps that are involved, among others, in establishing whether an individual is eligible for N-of-1 treatment development. We have tested these principles, using Duchenne muscular dystrophy as a use case. Our analysis shows that while assessing some eligibility aspects, such as genetic eligibility, is relatively straightforward, assessing other criteria, such as unmet medical need and extrapolation from approved treatments, was more difficult.

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2025.106221

Authors: Annemieke Aartsma-Rus, Anneliene H. Jonker, Daniel O’Connor

Institutions: Leiden University Medical Center, Duchenne Parent Project, University of Twente, Association of the British Pharmaceutical Industry

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,470