Therapies for rare diseases: therapeutic modalities, progress and challenges ahead
Abstract
Most rare diseases still lack approved treatments despite major advances in research providing the tools to understand their molecular basis, as well as legislation providing regulatory and economic incentives to catalyse the development of specific therapies. Addressing this translational gap is a multifaceted challenge, for which a key aspect is the selection of the optimal therapeutic modality for translating advances in rare disease knowledge into potential medicines, known as orphan drugs. With this in mind, we discuss here the technological basis and rare disease applicability of the main therapeutic modalities, including small molecules, monoclonal antibodies, protein replacement therapies, oligonucleotides and gene and cell therapies, as well as drug repurposing. For each modality, we consider its strengths and limitations as a platform for rare disease therapy development and describe clinical progress so far in developing drugs based on it. We also discuss selected overarching topics in the development of therapies for rare diseases, such as approval statistics, engagement of patients in the process, regulatory pathways and digital tools.
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The drug discovery process is adapting by incorporating novel data science, informatics, and artificial intelligence methodologies to improve efficiency, reduce costs and animal experiments, and accelerate development of novel, effective treatments.
“As therapeutic modalities continue to evolve (3), the drug discovery process is adapting by incorporating novel data science, informatics, and artificial intelligence (AI) methodologies, among other technologies, to improve efficiency, and reduce costs and animal experiments, thus accelerating the development of novel, effective treatments.”
From Artificial Intelligence for Drug Discovery: Are We There Yet? (2024) · cites this paper as [3]
The number of new orphan drugs approved to treat rare diseases remains constant at ∼60, as reported in 2021.
“The number of new orphan drugs approved to treat rare diseases (23) remains constant at ∼60, as reported in 2021 (Table 1).”
From DrugCentral 2023 extends human clinical data and integrates veterinary drugs (2023) · cites this paper as [23]
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Orphan Drugs, Compounded Medication and Pharmaceutical Commons
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Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
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Determining the value of genomics in healthcare
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Long way to go: Progress of orphan drug accessibility in China from 2017 to 2022
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- Authors
- Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., Valentine, J., Davies, K., Groft, S. C., Preti, R., Oprea, T. I., & Prunotto, M.
- Affiliations
- Rare Disease Foundation (CA)
- Case Western Reserve University (US)
- National Institutes of Health (US)
- European Medicines Agency (NL)
- University of Oxford (GB)
- University of New Mexico (US)
- University of Geneva (CH)
- Corresponding author
- Tambuyzer, Erik
- Prunotto, Marco
- ORCID
- Venue
- Nature Reviews Drug Discovery
- Published
- 2019-12-13
- Volume
- 19
- Issue
- 2
- Pages
- 93-111
- ISSN
- 1474-1776 (ISSN-L)
- 1474-1784
- OpenAlex
- W2994844251
- Semantic Scholar
- b81783b225e115f42fe2a6eee47b0a650e5dfc28
- Cited by
- 357
- References
- 166
- Citations by year
- 2026: 44 · 2025: 52 · 2024: 70 · 2023: 68 · 2022: 58 · 2021: 43 · 2020: 21 · 2019: 1
- FWCI
- 8.52
- Type
- journal article
- Language
- en
- Update notices
- correction (2020-01-08)
- Open access
- closed
- Locations
- Nature Reviews Drug Discovery (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Pharmaceutical Economics and Policy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Physical Sciences › Mathematics › Statistics and Probability › Statistical Methods in Clinical Trials
- Keywords
- rare diseases, orphan drugs, therapeutic modalities, small molecules, monoclonal antibodies, protein replacement therapy, oligonucleotides, gene therapy, cell therapy, drug repurposing, drug development, regulatory pathways, patient engagement, digital tools, translational gap
- MeSH terms
- Drug Development, Humans, Orphan Drug Production, Drug Approval, Rare Diseases, Drug Repositioning
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