Cited by 358Pharmaceutical Economics and PolicyGenomics and Rare DiseasesStatistical Methods in Clinical Trials

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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Tambuyzer, Erik, Vandendriessche, Benjamin, Austin, Christopher P., Brooks, Philip J., Larsson, Kristina, Miller Needleman, Katherine I., Valentine, James, Davies, Kay, Groft, Stephen C., Preti, Robert, Oprea, Tudor I., Prunotto, Marco·2020·Nature Reviews Drug Discovery

DOI 10.1038/s41573-019-0049-9

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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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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: Vandendriessche, Benjamin
Austin, Christopher P.
Brooks, Philip J.
Larsson, Kristina
Valentine, James
Davies, Kay
Groft, Stephen C.
Oprea, Tudor I.
Prunotto, Marco
Venue: Nature Reviews Drug Discovery
Publisher: Springer Science and Business Media LLC
Published: 2019-12-13
Volume: 19
Issue: 2
Pages: 93-111
ISSN: 1474-1776 (ISSN-L)
1474-1784
DOI: 10.1038/s41573-019-0049-9
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

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