ReviewEMBO molecular medicine2023
Targeting shared molecular etiologies to accelerate drug development for rare diseases.
Review in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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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
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directions.Orphanet journal of rare diseases · 2025Pooled it
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases.Genome medicine · 2026Article
- Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.Scientific reports · 2026Article
- An engineered UGA suppressor tRNA gene for disease-agnostic AAV delivery.Nature biotechnology · 2026Article
- Systems-level identification of conserved molecular drivers underlying the progression of alcoholic hepatitis and alcoholic cirrhosis and their therapeutic modulation by S-adenosyl-L-methionine.Frontiers in bioinformatics · 2026Article
- CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.Human molecular genetics · 2025Article
- Considerations for mRNA Product Development, Regulation and Deployment Across the Lifecycle.Vaccines · 2025Review
- Research priorities for non-invasive therapies to improve hydrocephalus outcomes.Fluids and barriers of the CNS · 2025Review
- Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Aligning Orphanet Classification to Identify Disease Characteristics among Rare Disease Clusters.Proceedings. IEEE International Conference on Bioinformatics and Biomedicine · 2024Article
- Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Reframing risks in rare diseases: economics of networks, spillovers, and scale.Frontiers in pharmacology · 2024Article
- New clinical insight in amyotrophic lateral sclerosis and innovative clinical development from the non-profit repurposing trial of the old drug guanabenz.Frontiers in medicine · 2024Review
- Fostering the international interoperability of clinical research networks to tackle undiagnosed and under-researched rare diseases.Frontiers in medicine · 2024Article
- Defining rare conditions in the era of personalized medicine.Nature reviews. Drug discovery · 2023Article
- Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System.Biomedicines · 2023Article
- Targeting shared molecular etiologies to accelerate drug development for rare diseases.EMBO molecular medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases affect over 400 million people worldwide and less than 5% of rare diseases have an approved treatment. Fortunately, the number of underlying disease etiologies is far less than the number of diseases, because many rare diseases share a common molecular etiology. Moreover, many of these shared molecular etiologies are therapeutically actionable. Grouping rare disease patients for clinical trials based on the underlying molecular etiology, rather than the traditional, symptom-based definition of disease, has the potential to greatly increase the number of patients gaining access to clinical trials. Basket clinical trials based on a shared molecular drug target have become common in the field of oncology and have been accepted by regulatory agencies as a basis for drug approvals. Implementation of basket clinical trials in the field of rare diseases is seen by multiple stakeholders-patients, researchers, clinicians, industry, regulators, and funders-as a solution to accelerate the identification of new therapies and address patient's unmet needs.
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What 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.