If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
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DOI：
10.1016/j.cct.2011.11.016
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发表时间：
2012-03
影响因子：
2.2
通讯作者：
Registry Scientific Advisory Committee
中科院分区：
文献类型：
--
作者：
Hilbert JE;Kissel JT;Luebbe EA;Martens WB;McDermott MP;Sanders DB;Tawil R;Thornton CA;Moxley RT 3rd;Registry Scientific Advisory Committee
随着实验性疗法的发展，登记对罕见病越来越重要。本报告描述了肌强直性营养不良症（DM）和面肩肱肌营养不良症（FSHD）患者和家庭成员国家登记的方法，以促进其他罕见疾病登记的发展。我们还强调了在基线和纵向上报道的关于糖尿病和FSHD的病理生理学和选择负担的数据。该登记处包括在基线和每年收集的去识别的、病人报告的信息以及审查医疗记录的信息。研究人员可以使用该登记处来分析去识别的数据，并促进临床研究的招募。迄今为止，该登记处已招收了1611名成员，促进了24项研究，并在长达8年的时间里每年收集数据。56.2%的受试者获得了基因检测结果。大约三分之一的成员使用辅助设备，另有三分之一的人在基线时报告有心理问题。7.0%的伤残人士及18.1%的伤残人士短距离及远距离均使用轮椅。大约60%的成员报告说，他们的就业受到疾病的影响。该登记处的优势包括样本量大、临床和分子数据的严格审查、每年更新的信息以及患者和研究人员之间的定期互动。登记数据为糖尿病和FSHD的负担提供了新的见解，例如心理问题和就业减少。研究人员有很多机会利用登记处的资源来评估这些负担和其他负担对医疗保健费用、症状进展和生活质量的影响。
Registries are becoming increasingly important for rare diseases as experimental therapies develop. This report describes the methodology behind the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Patients and Family Members to facilitate the development of other rare disease registries. We also highlight data about the pathophysiology and select burdens of DM and FSHD reported at baseline and longitudinally. The Registry consists of de-identified, patient reported information collected at baseline and annually and information from review of medical records. Investigators can use the Registry to analyze de-identified data and to facilitate recruitment into clinical studies. To date, the Registry has enrolled 1611 members, facilitated 24 studies, and collected data annually for up to 8 years. Genetic test results were obtained in 56.2% of enrollees. Approximately one-third of members used assistive devices and another one-third reported psychological problems at baseline. Wheelchair use was reported for both short and long distances by 7.0% of DM and 18.1% of FSHD members. Approximately 60% of members reported their employment was affected by their disease. Strengths of the Registry include large sample sizes, stringent review of clinical and molecular data, annually updated information, and regular interactions between patients and investigators. Registry data provide new insights into the burdens of DM and FSHD, such as, psychological problems and reduced employment. Opportunities abound for investigators to utilize Registry resources to assess the impact of these and other burdens on health care costs, progression of symptoms, and quality of life.
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影响因子：
9.9
作者：
de Greef, J. C.;Lemmers, R. J. L. F.;Tawil, R.
通讯作者：
Tawil, R.
影响因子：
56.9
作者：
MAHADEVAN, M;TSILFIDIS, C;KORNELUK, RG
通讯作者：
KORNELUK, RG
影响因子：
56.9
作者：
Liquori, CL;Ricker, K;Ranum, LPW
通讯作者：
Ranum, LPW
影响因子：
9.9
作者：
Ciafaloni, E.;Pressman, E. K.;Tawil, R.
通讯作者：
Tawil, R.
DOI：
10.1016/j.apmr.2007.08.153
发表时间：
2008-02-01
影响因子：
4.3
作者：
Jensen, Mark P.;Hoffman, Amy J.;McDonald, Craig M.
通讯作者：
McDonald, Craig M.