Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience
Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience
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DOI：
10.1007/s10897-013-9642-y
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发表时间：
2014-02-01
影响因子：
1.9
通讯作者：
Mooney, Kimberly
中科院分区：
文献类型：
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作者：
DeWard, Stephanie J.;Wilson, Ashley;Mooney, Kimberly
为罕见遗传病患者提供治疗需要临床研究。尽管越来越多的患者支持和倡导团体积极行动，以增加获得临床研究的机会，但将罕见疾病患者与可能帮助他们的临床研究机会联系起来已被证明具有挑战性。这些挑战主要包括：这些疾病的发病率低，导致患有特定疾病的已知患者非常少；难以诊断罕见的遗传疾病；后勤问题，如距离最近的治疗中心很远；以及巨大的疾病负担导致丧失独立性。本文以苯丙酮尿症临床研究为例，根据作者的集体经验，讨论了临床医生、患者、研究协调员、遗传咨询师、营养师、行业、患者支持团体和家庭之间的伙伴关系如何帮助克服招募和留住罕见病临床试验患者的挑战。我们将讨论合作、交流和教育的具体方法，作为建立一个致力于推进罕见遗传疾病患者医疗护理的社区的长期努力的一部分。通过定期与患者和家属讨论研究计划，并采取措施使研究参与尽可能容易，罕见病诊所的工作人员可以帮助确保充分的研究登记和成功完成研究。
Bringing treatments for rare genetic diseases to patients requires clinical research. Despite increasing activism from patient support and advocacy groups to increase access to clinical research studies, connecting rare disease patients with the clinical research opportunities that may help them has proven challenging. Chief among these challenges are the low incidence of these diseases resulting in a very small pool of known patients with a particular disease, difficulty of diagnosing rare genetic diseases, logistical issues such as long distances to the nearest treatment center, and substantial disease burden leading to loss of independence. Using clinical studies of phenylketonuria as an example, this paper discusses how, based on the authors' collective experience, partnership among clinicians, patients, study coordinators, genetic counselors, dietitians, industry, patient support groups, and families can help overcome the challenges of recruiting and retaining patients in rare disease clinical trials. We discuss specific methods of collaboration, communication, and education as part of a long-term effort to build a community committed to advancing the medical care of patients with rare genetic diseases. By talking to patients and families regularly about research initiatives and taking steps to make study participation as easy as possible, rare disease clinic staff can help ensure adequate study enrollment and successful study completion.