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

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.

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Publication Details

Journal
Neuromuscular Disorders
Published
2025-09-25
DOI
https://doi.org/10.1016/j.nmd.2025.106221
Citations
1
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
1.63

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article

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

Daniel O’Connor, Annemieke Aartsma‐Rus, Anneliene Hechtelt Jonker
1 citations
Neuromuscular Disorders
Neurogenetic and Muscular Disorders Research
1.63
article

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

Daniel O’Connor, Annemieke Aartsma‐Rus, Anneliene Hechtelt Jonker
article en
1 citations

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.

Neuromuscular DisordersVol. 55
Leiden University Medical Center (NL), Association of the British Pharmaceutical Industry (GB), Duchenne Parent Project (NL), University of Twente (NL)
Pfizer, Alnylam Pharmaceuticals, Sarepta Therapeutics, Eisai, Leids Universitair Medisch Centrum, Italfarmaco, Silence Therapeutics
Openalex Percentile: Top 13%
Neurogenetic and Muscular Disorders Research
1.63
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