The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Clinical research for rare disease: Opportunities, challenges, and solutions
Open accessAbstract
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.
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“While glioblastoma is the most common malignant primary brain tumor26–28, it is still classified as a “rare” disease, as its incidence rate (i.e., 3/100,000 people) is substantially lower than the rare disease definition rate (i.e., <10/100,000 people)24.”
From Federated learning enables big data for rare cancer boundary detection (2022) · cites this paper as [24]
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“FL has tremendous potential in healthcare22,23, particularly towards addressing health disparities, under-served populations, and “rare” diseases24, by enabling ML models to gain knowledge from ample and diverse data that would otherwise not be available.”
From Federated learning enables big data for rare cancer boundary detection (2022) · cites this paper as [24]
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Research works printed but not linked: 1
- J. Mitsumoto, E.R. Dorsey, J. Thompson, R.C. Griggs, Impact of the Orphan Drug Act on Drug Development. Presented at the Conference on Clinical Research for Rare Diseases, September 5, 2007, Bethesda, MD.
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International Collaboration in Primary Ciliary Dyskinesia
Pennekamp, P., Manion, M., & Omran, H. (2026) · Pediatric Pulmonology · doi:10.1002/ppul.71888
Metadata
- Authors
- Griggs, R. C., Batshaw, M., Dunkle, M., Gopal-Srivastava, R., Kaye, E., Krischer, J., Nguyen, T., Paulus, K., & Merkel, P. A.
- Affiliations
- University of Rochester Medicine (US)
- Children's National (US)
- National Organization for Rare Disorders (US)
- National Institutes of Health (US)
- University of South Florida (US)
- United States Food and Drug Administration (US)
- Boston University (US)
- Corresponding author
- Griggs, Robert C.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2009-01
- Volume
- 96
- Issue
- 1
- Pages
- 20-26
- ISSN
- 1096-7192 (ISSN-L)
- PMC
- PMC3134795
- OpenAlex
- W2132265655
- Cited by
- 401
- References
- 21
- Citations by year
- 2026: 21 · 2025: 22 · 2024: 22 · 2023: 20 · 2022: 38 · 2021: 43 · 2020: 25 · 2019: 26 · 2018: 27 · 2017: 23 · 2016: 18 · 2015: 25 · 2014: 25 · 2013: 22 · 2012: 17
- FWCI
- 8.50
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5u54ns059065-07)
- National Heart, Lung, and Blood Institute (U54HL077878)
- National Institute of Diabetes and Digestive and Kidney Diseases (U54DK078377)
- National Institute of Neurological Disorders and Stroke (U54-NS059065)
- National Center for Research Resources (U54RR019478, U54RR019453, U54RR019259, R13RR024337, U54RR019497, U54RR019498, U54RR019480, U54RR019397, U54RR019484)
- Topics
- Physical Sciences › Mathematics › Statistics and Probability › Statistical Methods in Clinical Trials
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- rare diseases, orphan drugs, Orphan Drug Act, clinical trial design, natural history research, N-of-1 trials, crossover trial, regulatory approval, drug development, clinical research funding, molecular genetics
- MeSH terms
- Workforce, Clinical Trials as Topic, Financing, Government, Humans, Orphan Drug Production, United States, Drug Design, Rare Diseases, Biomedical Research, Public-Private Sector Partnerships
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