ArticleMolecular genetics and metabolism2009
Clinical research for rare disease: opportunities, challenges, and solutions.
Article in Molecular genetics and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 183 papers, 2 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.
Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age
Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
Who cites it
183 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic literature review of burden of illness in chronic inflammatory demyelinating polyneuropathy (CIDP).Journal of neurology · 2021Pooled it
- Characteristics of clinical trials in rare vs. common diseases: A register-based Latvian study.PloS one · 2018Pooled it
- In search of effective therapies: the current landscape of phase II trials in patients with advanced soft tissue sarcoma.Journal of cancer research and clinical oncology · 2023Trial
- A survey of patients with laryngotracheal stenosis on future clinical trial design.Clinical trials (London, England) · 2022Trial
- Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.BMC neurology · 2015Trial
- Trial
- Article
- Do the math: modernizing the FDA's evidence paradigm for precision medicine.The Journal of clinical investigation · 2026Article
- From Small Data to Big Decisions: How Clinical Pharmacology Shapes Rare Disease Development.Journal of clinical pharmacology · 2026Review
- Regulatory Alignment on Surrogate Endpoints for Slowly Progressive Ultra-Rare Neurological Diseases: Bridging the Gap Between Biomarker Science and Global Regulatory Acceptance.Therapeutic innovation & regulatory science · 2026Review
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Toxicokinetics under extracorporeal clearance and temporal dissociation of hepatotoxicity and coagulopathy in ACDMB poisoning: Two index cases.Toxicology reports · 2026Article
- Optimizing regional rare disease management systems within China's policy framework: practical insights from the shantou experience.Orphanet journal of rare diseases · 2026Review
- Assessing healthcare experiences and barriers to care among individuals with ectodermal dysplasia.Orphanet journal of rare diseases · 2026Article
- From the rare to the essential: analyzing the needs of physicians and families managing rare diseases.BMC health services research · 2026Article
- Deciphering novel targets in salivary gland pleomorphic adenoma by integrating plasma proteomics and parotid transcriptomics analyses.Journal of dental sciences · 2026Article
- Using a participation monitoring database to enhance recruitment in a rare cancer population.Journal of clinical and translational science · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.Stem cells international · 2026Review
- High-throughput transcriptomic screening reveals entrectinib as a repositioning opportunity in 19q12 autism spectrum disorder.Scientific reports · 2025Article
123 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Over 7000 rare diseases, each <200,000 US residents, affect nearly 30 million people in the United States. Furthermore, for the 10% of people with a rare disease and for their families, these disorders no longer seem rare. Molecular genetics have characterized the cause of many rare diseases and provide unprecedented opportunities for identifying patients, determining phenotypes, and devising treatments to prevent, stabilize, or improve each disease. Rare disease research poses challenges to investigators requiring specific approaches to: (1) the design of clinical studies; (2) the funding of research programs; (3) the discovery, testing, and approval of new treatments, and (4) the training of clinical scientists. Rigorous, statistically-valid, natural history-controlled, cross-over, and n-of-1 trials can establish efficacy and support regulatory approval of new treatments for rare diseases. The U.S. Orphan Drug Act of the U.S. FDA has stimulated industry investment in clinical trials to develop treatments for rare diseases. For trainees interested in finding a treatment for a rare disease, a commitment to longitudinal care of patients provides a base for the characterization of phenotype and natural history, a stimulus for innovation, a target population for research and helps fund training and research. The scientific methodology, financial resources, and logistics of clinical research for rare diseases have changed dramatically in the past two decades resulting in increased understanding of the pathophysiology of these disorders and direct benefit to patients.
Indexed as
Identifiers
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.