Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

被引：19

作者：

Karaa, Amel ^{[1
]}

Rahman, Shamima ^{[2
]}

Lombes, Anne ^{[3
]}

Yu-Wai-Man, Patrick ^{[4
,5
,6
]}

Sheikh, Muniza K. ^{[7
]}

Alai-Hansen, Sherita ^{[7
]}

Cohen, Bruce H. ^{[8
]}

Dimmock, David ^{[9
]}

Emrick, Lisa ^{[10
]}

Falk, Marni J. ^{[11
,12
]}

McCormack, Shana ^{[11
,12
]}

Mirsky, David ^{[13
]}

Moore, Tony ^{[14
,15
,16
]}

Parikh, Sumit ^{[17
]}

Shoffner, John

Taivassalo, Tanja ^{[18
]}

Tarnopolsky, Mark ^{[19
]}

Tein, Ingrid ^{[20
]}

Odenkirchen, Joanne C. ^{[21
]}

Goldstein, Amy ^{[22
]}

机构：

[1] Massachusetts Gen Hosp, Boston, MA 02114 USA

[2] UCL Great Ormond St Inst Child Hlth, London, England

[3] INSERM, Inst Cochin U1016, Paris, France

[4] Newcastle Univ, Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England

[5] Moorfields Eye Hosp, NIHR Biomed Res Ctr, London, England

[6] UCL Inst Ophthalmol, London, England

[7] Emmes Corp, Rockville, MD USA

[8] Akron Childrens Hosp, Akron, OH USA

[9] Med Coll Wisconsin, Milwaukee, WI 53226 USA

[10] Baylor Coll Med, Houston, TX 77030 USA

[11] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[12] Univ Penn, Perelman Sch Med, Philadelphia, PA USA

[13] Childrens Hosp Colorado, Aurora, CO USA

[14] UCL, Inst Ophthalmol, London, England

[15] Moorfields Eye Hosp, London, England

[16] Univ Calif San Francisco, Dept Ophthalmol, San Francisco, CA 94143 USA

[17] Cleveland Clin, Cleveland, OH 44106 USA

[18] McGill Univ, Montreal, CA USA

[19] McMaster Univ, Hamilton, ON, Canada

[20] Univ Toronto, Hosp Sick Children, Toronto, ON, Canada

[21] NIH, NINDS, Bethesda, MD USA

[22] Childrens Hosp Pittsburgh, 4401 Penn Ave, Pittsburgh, PA 15224 USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2017年 / 40卷 / 03期

关键词：

SEQUENCE VARIANTS; GUIDELINES; DIAGNOSIS;

D O I：

10.1007/s10545-017-0035-5

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Objectives The common data elements (CDE) project was developed by the National Institute of Neurological Disorders and Stroke (NINDS) to provide clinical researchers with tools to improve data quality and allow for harmonization of data collected in different research studies. CDEs have been created for several neurological diseases; the aim of this project was to develop CDEs specifically curated for mitochondrial disease (Mito) to enhance clinical research. Methods Nine working groups (WGs), composed of international mitochondrial disease experts, provided recommendations for Mito clinical research. They initially reviewed existing NINDS CDEs and instruments, and developed new data elements or instruments when needed. Recommendations were organized, internally reviewed by the Mito WGs, and posted online for external public comment for a period of eight weeks. The final version was again reviewed by all WGs and the NINDS CDE team prior to posting for public use. Results The NINDS Mito CDEs and supporting documents are publicly available on the NINDS CDE website (https://commondataelements. ninds.nih.gov/), organized into domain categories such as Participant/Subject Characteristics, Assessments, and Examinations. Conclusion We developed a comprehensive set of CDE recommendations, data definitions, case report forms (CRFs), and guidelines for use in Mito clinical research. The widespread use of CDEs is intended to enhance Mito clinical research endeavors, including natural history studies, clinical trial design, and data sharing. Ongoing international collaboration will facilitate regular review, updates and online publication of Mito CDEs, and support improved consistency of data collection and reporting.

引用

页码：403 / 414

页数：12

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