ArticleClinical and experimental pediatrics2024
Development of orphan drugs for rare diseases.
Article in Clinical and experimental pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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
14 citing papers in PubMed.
- PKRxiv: A Best Practice Model for Advancing Pharmacoequity Through Open Pharmacokinetic Data Sharing.Clinical pharmacology and therapeutics · 2026Article
- An integrative neuropharmacological review of Huntington's disease challenges and the role of novel formulations in addressing pharmacological‒pharmaceutical limitations.Frontiers in pharmacology · 2026Review
- Exploring community pharmacy manager/ pharmacist perceptions and responses to China's dual-channel policy for improving access and rational use of innovative drugs: a qualitative study.International journal of clinical pharmacy · 2025Article
- Can the Development of Orphan Drugs Include Wider Patient Engagement? A Citizens' Jury to Explore a Promissory Notion.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Advances in Cell and Gene Therapy for Rare Disease Treatment.International journal of stem cells · 2025Review
- Navigating the orphan medicinal product designation: Evidence requirements for gene therapies in Europe.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Evolving Research and Development Landscape for Rare Diseases: Growing Concerns Over Orphan Drug Lag in Japan.Clinical pharmacology and therapeutics · 2025Article
- Visual Research of Global Orphan Drug from a Bibliometric Perspective.Drug design, development and therapy · 2025Article
- Human-based complexFrontiers in cell and developmental biology · 2025Review
- Perry Disease: Current Outlook and Advances in Drug Discovery Approach to Symptomatic Treatment.International journal of molecular sciences · 2024Review
- A Rose by Any Other Name: The Long Intricate History of Localized Aggressive Periodontitis.Pathogens (Basel, Switzerland) · 2024Review
- Advancing orphan drug development for rare diseases.Clinical and experimental pediatrics · 2024Article
- Review
- Building advocacy into research.Disease models & mechanisms · 2023Article
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most rare diseases (orphan diseases) still lack approved treatment options despite major advances in research providing the necessary tools to understand their molecular basis and legislation providing regulatory and economic incentives to expedite the development of specific therapies. Addressing this translational gap is a multifaceted challenge, a key aspect of which is the selection of an optimal therapeutic modality to translate advances in rare disease knowledge to potential medicines known as orphan drugs. There are several strategies for developing orphan drugs for rare genetic disorders, including protein replacement therapies, small-molecule therapies (e.g., substrate reduction, chemical chaperone, cofactor, expression modification, and read-through therapies), monoclonal antibodies, antisense oligonucleotides, small interfering RNA or exon skipping therapies, gene replacement and direct genome-editing therapies, mRNA therapy, cell therapy, and drug repurposing. Each strategy has its own strengths and limitations in orphan drug development. Furthermore, numerous hurdles are present in clinical trials of rare genetic diseases because of difficulty with patient recruitment, unknown molecular physiology, the natural history of the disease, ethical concerns regarding pediatric patients, and regulatory challenges. To address these barriers, the rare genetic diseases community, including academic institutions, industry, patient advocacy groups, foundations, payers, and government regulatory and research organizations, must become engaged in discussions about these issues.
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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.