ReviewNature reviews. Drug discovery2020
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
Review in Nature reviews. Drug discovery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 187 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
187 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Characteristics of pediatric drug-related investigator-initiated trials in Chinese children's hospitals: a comparative analysis based on ChiCTR and ClinicalTrials.gov registration data.Frontiers in pharmacology · 2026Pooled it
- Societal participation in the development of orphan drugs: a systematic review.Frontiers in medicine · 2025Pooled it
- The relative importance of severity and rarity criteria in health resource allocation: an umbrella review.International journal of technology assessment in health care · 2024Pooled it
- Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Licensing of Orphan Medicinal Products-Use of Real-World Data and Other External Data on Efficacy Aspects in Marketing Authorization Applications Concluded at the European Medicines Agency Between 2019 and 2021.Frontiers in pharmacology · 2022Pooled it
- Smartphone-Based Proactive Self-Screening for Ocular Surface Malignancies: A Nonrandomized Clinical Trial.JAMA ophthalmology · 2026Trial
- Randomized controlled trial data for successful new drug application for rare diseases in the United States.Orphanet journal of rare diseases · 2023Trial
- Hydrogels: current biomedical applications and future directions.Molecular biomedicine · 2026Review
- What Drives Public Preference for Rare Drugs Coverage in China? Insights From a Multi-Center Discrete Choice Experiment.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Genetically supported drug target prioritization for rare diseases.Genome medicine · 2026Article
- Modular nucleic acid-based construct for delivery of immunostimulatory agonists and oncogene-silencing oligonucleotides in tumours.Nature biomedical engineering · 2026Article
- Editors' Note: Gene Therapy and Rare Diseases Through the Ages: Stories of Science and Society.The Yale journal of biology and medicine · 2026Article
- Halofantrine protects photoreceptors in multiple models of retinal degeneration.Research square · 2026Article
- Optimizing Oligonucleotide Therapeutics: A Model-Informed Drug Development Perspective.Clinical and translational science · 2026Review
- Patent Analysis Perspectives on China's Orphan Drug R&D: Status and Technology Characteristics.Therapeutic innovation & regulatory science · 2026Article
- Non-viral delivery of genome-editing tools for treatment of genetic disorders.Acta pharmaceutica Sinica. B · 2026Review
- Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- When Rare Is Not Small: Amyotrophic Lateral Sclerosis Initiatives and Therapy.Exploration (Beijing, China) · 2026Article
- Aging and rare diseases: from epidemiology to a call to action.European geriatric medicine · 2026Article
127 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
31836861What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.