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首页> 外文期刊>Molecular genetics and metabolism >Clinical research for rare disease: opportunities, challenges, and solutions.
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Clinical research for rare disease: opportunities, challenges, and solutions.

机译：罕见疾病的临床研究：机遇，挑战和解决方案。

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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.
机译：7000多种罕见病（每种疾病<20万美国居民）影响了美国近3000万人。此外，对于10％的罕见病患者及其家人来说，这些疾病似乎不再罕见。分子遗传学已表征了许多罕见疾病的病因，并为识别患者，确定表型以及设计预防，稳定或改善每种疾病的治疗方法提供了前所未有的机会。罕见病研究给需要特定方法的研究人员带来了挑战：（1）临床研究的设计; （2）研究计划的经费; （3）发现，测试和批准新疗法，以及（4）对临床科学家进行培训。严格的，统计学上有效的，自然历史对照的，交叉的和n-of-1试验可以建立疗效，并支持对罕见病新疗法的监管批准。美国FDA的《美国孤儿药法》刺激了行业对临床试验的投资，以开发罕见病的治疗方法。对于有兴趣寻找一种罕见疾病的治疗方法的受训者，对患者进行纵向护理的承诺为表征表型和自然病史提供了基础，为创新提供了刺激，为研究提供了目标人群，并有助于为培训和研究提供资金。在过去的二十年中，稀有疾病的科学方法论，财务资源和临床研究的物流已发生了巨大变化，从而使人们对这些疾病的病理生理学有了更多的了解，并直接给患者带来了好处。

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