Mitochondrial Disease

Data Standards

The National Institute of Neurological Disorders and Stroke (NINDS), other Federal agencies, and international organizations have the common mission of developing data standards for clinical research. Through the efforts of subject-specific working groups, topic-driven data elements have been created. The first set of Common Data Elements (CDEs) for Mitochondrial Disease was developed in 2014-2015. The Core CDEs to be used by an investigator when beginning a research study in this disease/disorder are listed in the Start-up Resource Listing.

Many of the CDEs will overlap across study types, which allows for comparisons and meta-analyses across studies. Consistency of the data elements and the CDE formats is kept in order to ensure the ability to transfer critical medical information electronically from one center to another. This consistency also allows for continuity across different disease areas. The goals of the NINDS CDE initiative are to increase the efficiency and effectiveness of clinical research studies and clinical treatment, increase data quality, facilitate data sharing and help educate new clinical investigators.

Organized by working groups (Biomarkers, Cognitive/Behavioral/Psychological, Endocrinology/Diabetes/GI/Nutrition, Exercise Physiology, Genetics, Imaging, Neurological Diseases, Patient Reported Outcome, and Vision), often used in clinical studies, data standards include:

An overview of all Mitochondrial Disease CDE recommendations can be found in the Mitochondrial Disease CDE Highlight Summary document. For your reference, a zip file containing all the current Mitochondrial Disease CDE template CRF modules can be downloaded below.

The outline that follows includes all the CDEs associated with the CRF modules, organized by domain and sub-domain.

Participant Characteristics
Demographics
CRF Module/Guideline CDEs
General Core CDE Details
Participant History and Family History
Outcomes and End Points
Academic Achievement
CRF Module/Guideline CDEs
American National Adult Reading Test (AmNART) CDE Details
Neuropsychological Testing
CRF Module/Guideline CDEs
Bayley Scales of Infant Development (Bayley III, BSID) N/A
Ataxia and Performance Measures
CRF Module/Guideline CDEs
International Cooperative Ataxia Rating Scale (ICARS) N/A
Scale for the Assessment and Rating of Ataxia N/A
Visual-Spatial Processing
CRF Module/Guideline CDEs
Judgment of Line Orientation (Benton JLO) N/A
Memory
CRF Module/Guideline CDEs
Memory Assessment Scale N/A
Pulmonary Function Testing/Respiratory Status
CRF Module/Guideline CDEs
Pulmonary Function CDE Details

Overview

To develop the Mitochondrial Disease CDEs, the Mitochondrial Disease CDE Working Groups are divided into subgroups to focus on identifying and defining data elements in the domains of:

 

• Biomarkers

• Cognitive/Behavioral/Psychological

• Endocrinology/Diabetes/GI/Nutrition

• Exercise Physiology

• Genetics

• Imaging

• Neurological Assessments

• Patient Reported Outcomes/Quality of Life

• Vision

 

Data standards include CDEs as well as case report form (CRF) Modules and Guidelines. The CRF Modules logically organize the CDEs for data collection, while the Guidelines provide further information about the CDEs. The CDEs, CRF Modules, and Guidelines presented are organized into domains which are intuitive and common in clinical research studies.

History and Acknowledgements

The Mitochondrial CDE Working Group is comprised of nine different subgroups. The Working Group members have developed the CDEs for their specific subgroups. The Mitochondrial CDE Working Group is supported by the NINDS CDE Team. The subgroups began meeting by teleconference in April 2014 and held calls every four to six weeks to define the CDEs for their domains and to recommend standardized, validated instruments for mitochondrial disease research.

Complete Mitochondrial CDE Roster

The complete Mitochondrial Disease CDE Working Group roster and the rosters by Subgroup are shown below.

Oversight Committee Members

  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
    Co-Chair
  • Lynne A. Wolfe, MS, PNP, BC
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
    Co-Chair
  • Marni Falk, MD
    The Children's Hospital of Philadelphia, Philadelphia, Pennslyvania
  • Danuta Krotoski, PhD
    National Institutes of Health, Bethesda, Maryland
  • Russel Saneto, DO, PhD
    Seattle Children's Hospital, Seattle, Washington
  • John Shoffner, MD
    Atlanta, Georgia
  • Johan Van Hove, MD, PhD, MBA
    University of Colorado, Aurora, Colorado
  • Jerry Vockley, MD, PhD
    University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
  • Philip Yeske, PhD
    United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

Biomarkers Working Group

  • John Shoffner, MD
    Atlanta, Georgia
    Chair
  • Mark Bamberger, PhD
    Stealth Peptides, Inc, Newton, Massachusetts
  • Yasutoshi Koga, MD, PhD
    Kurume University, Fukuoka-ken, Japan
  • Anne Lombès, MD, PhD
    INSERM, Paris, France
  • Fernando Scaglia, MD
    Baylor College of Medicine, Houston, Texas

Cognitive/Behavioral/Psychological Outcomes Working Group

  • Lisa Emrick, MD
    Baylor College of Medicine, Houston, Texas
    Chair
  • Rebecca Vaurio, PhD
    Kennedy Krieger Institute, Baltimore, Maryland

Endocrinology/Diabetes/GI/Nutrition Working Group

  • Shana McCormack, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Chair
  • Jose E. Abdenur, MD
    Children's Hospital of Orange County, Orange, California
  • Bret Goodpaster, PhD
    Sanford Burnham Prebys Medical Discovery Instititute, Orlando, Florida
  • Robert O. Heuckeroth, MD, PhD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Robert McFarland, DoH, HEFCE
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Philip Morgan, MD
    Mitochondrial Research Guild, Seattle, Washington
  • Fernando Scaglia, MD
    Baylor College of Medicine, Houston, Texas
  • Charles A. Stanley, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Steven M. Willi, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania

Exercise Physiology Working Group

  • Tanja Taivassalo, PhD
    McGill University, Montreal, Canada
    Chair
  • Amy Goldstein, MD
    Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
  • Ronald Haller, MD
    Southwestern Medical Center, Dallas, Texas
  • Mark Tarnopolsky, MD, PhD
    McMaster University, Hamilton, Ontario, Canada
  • Karim Wahbi, MD, PhD
    Institute of Myology, Paris, France

Genetics Working Group

  • David Dimmock, MD
    Medical College of Wisconsin, Milwaukee, Wisconsin
    Co-Chair
  • Marn J. Falk, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Co-Chair
  • Xiaowu Gai, PhD
    Ocular Genomics Institute, Boston, Massachusetts
  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
  • Anne Lombès, MD, PhD
    INSERM, Paris, France
  • Shamima Rahman, PhD, FRCP(C), FRCPCH
    UCL Institute of Child Health, London, United Kingdom
  • Fernando Scaglia, MD
    Baylor College of Medicine, Houston, Texas
  • Curt Scharfe, MD, PhD
    Stanford University School of Medicine, Stanford, California
  • David Thorburn, PhD, FHGSA, FFSC (RCPA)
    Murdoch Children's Research Institute, Victoria, Australia
  • Stephan Züchner, MD, PhD
    Dr. John T. Macdonald Foundation, Miami, Florida

Imaging Working Group

  • David M. Mirsky, MD
    Children's Hospital Colorado, Aurora, Colorado
    Chair
  • Abigail Collins, MD
    Children's Hospital Colorado, Aurora, Colorado
  • Andrea L. Gropman, MD
    Children's National Medical Center, Washington, District of Columbia
  • Edward Yang, MD
    Boston Children's Hospital, Boston, Massachusetts

Neurological Assessments Working Group

  • Bruce Cohen, MD, FAAN
    Akron Children's Hospital, Akron, Ohio
    Co-Chair
  • Ingrid Tein, MD, FRCP
    University of Toronto, Toronto, Canada
    Co-Chair
  • Laurence Bindoff, MD, PhD
    University of Bergen, Bergen, Norway
  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
  • Matthew Klein, MD, MS, FACS
    Edison Pharmaceuticals, Mountain View, California
  • Thomas Klopstock, MD
    Ludwig Maximilian University of Munich, Munchen, Germany
  • Saskia Koene, MD
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Pascal Lafor?t, MD, PhD
    Assistance Publique-H?pitaux de Paris, Paris, France
  • Margherita Milone, MD, PhD
    Mayo School of Graduate Medical Education, Rochester, Minnesota
  • Jan Smeitink, MD, PhD
    Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Patient Reported Outcomes/QOL Working Group

  • Mary Kay Koenig, MD
    University of Texas Health Science Center, Houston, Texas
    Co-Chair
  • Sumit Parikh, MD
    Cleveland Clinic, Cleveland, Ohio
    Co-Chair
  • Cristy Balcells, RN, MSN
    Mito Action, Medford, Massachusetts
  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
  • Amel Karaa, MD
    Massachusetts General Hospital, Boston, Massachusetts
  • Robert McFarland, DoH, HEFCE
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Russel Saneto, DO, PhD
    Seattle Children's Hospital, Seattle, Washington
  • Peter W. Stacpoole, MD, PhD
    University of Florida, Gainesville, Florida
  • Philip Yeske, PhD
    United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

Vision Working Group

  • Patrick Yu-Wai-Man, MBBS, PhD, FRCOphth
    Newcastle University, Newcastle upon Tyne, United Kingdom
    Chair
  • Piero Barboni, MD
    University of Bologna, Bologna, Italy
  • Valerio Carelli, MD, PhD
    University of Bologna School of Medicine, Bologna, Italy
  • Patrick Chinnery, PhD, MRCPath, MRCP
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Graham E. Holder, PhD
    Moorfields Eye Hospital, London, United Kingdom
  • John L. Keltner, MD
    UC Davis School of Medicine, Sacramento, California
  • Tony Moore, MA, FRCS, FCROphth, FMedSci
    Moorfields Eye Hospital, London, United Kingdom
  • Alfredo A. Sadun, MD, PhD
    University of California Los Angeles, Los Angeles, California
  • Claire Sheldon, MD, PhD
    University of Pennsylvania, Philadelphia, Pennsylvania
  • Marcela Votruba, PhD, FRCOphth
    Cardiff University, Cardiff, United Kingdom

NIH Coordinating Team

  • Vernon Anderson, PhD
    National Institute of General Medical Sciences (NIGMS), National Institutes of Health (NIH), Bethesda, Maryland
  • Kathryn Camp MS, RD, CSP
    National Institutes of Health (NIH), Bethesda, Maryand
  • William C. Copeland, PhD
    National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, North Carolina
  • Kerry Goetz, MS
    National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland
  • Katrina A. Gwinn, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Adam Hartman, MD, FAAP, FANA, FAES
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Petra Kaufmann, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Danuta Krotoski, PhD
    National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland
  • Elizabeth McNeil, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • M. Carolina Mendoza-Puccini, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Joanne Odenkirchen, MPH
    NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Lynne A. Wolfe, MS, PNP, BC
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
  • Steven Zullo, PhD
    National Institute of Biomedical Imaging and Bioengineering (NIBIB), National Institutes of Health (NIH), Bethesda, Maryland

NINDS CDE Team

  • Muniza Sheikh, MS,MBA
    The Emmes Corporation
  • Joy Esterlitz, MS
    The Emmes Corporation
  • Ilar Edun, BA
    The Emmes Corporation
  • Sherita Ala'i Hansen, MS
    The Emmes Corporation
  • Elias R. Feldman
    The Emmes Corporation
  • Robin Feldman, BS, MBA
    The Emmes Corporation
  • Ayanna Garland
    The Emmes Corporation
  • Marybeth Montoro, MPH, CPH
    The Emmes Corporation
  • Divya Nigam, BS
    The Emmes Corporation
  • Amanda Suller, BS
    The Emmes Corporation

Updates

Please see attached revision history document. Please contact NINDSCDE@emmes.com if you require further information or have any questions about the revision history.

Mitochondrial CDE Revision History Document