Huntington’s Disease

Data Standards

The National Institute of Neurological Disorders and Stroke (NINDS) and 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 Huntington’s Disease was developed in 2011. The Core data elements 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-analysis 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 domains and sub-domains, often used in clinical studies, data standards include:

An overview of all Huntington’s disease (HD) CDE recommendations can be found in the Huntington’s disease (HD) CDE Highlight Summarydocument. For your reference, a zip file containing all the current Huntington’s disease (HD) 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
Demographics CDE Details
Social Status
CRF Module/Guideline CDEs
Social Status CDE Details
Participant History and Family History
Disease/Injury Related Events
Outcomes and End Points
Summary of All Outcome Recommendations
CRF Module/Guideline CDEs
HD CDE Instrument Recommendations by Domain and Classification N/A

Overview

To develop the Huntington’s disease (HD) CDEs, the Huntington’s disease CDE Working Group divided into subgroups to focus on identifying and defining data elements in the domains of:

  • Motor
  • Imaging Biomarkers
  • Biochemical Markers
  • Genetics
  • Epidemiology/Environment
  • Functional Outcomes/Patient Reported Outcomes
  • Behavior/ Psychiatry
  • Pathology
  • Operations
  • Cognitive
  • Scale Metrics and Statistics

History and Acknowledgements

The Huntington’s Disease CDE Working Group was comprised of eleven different subgroups. Chairs were appointed to lead the overall Working Group and the individual subgroups. The Working Group members actively developed the CDEs for their specific subgroups and also had an opportunity to review and comment on the recommendations of the other subgroups. The HD CDE Working Group was supported by the NINDS CDE Team. The complete HD CDE Working Group roster and the rosters by Subgroup are shown below.

Complete Huntington’s Disease CDE Working Group Roster

 

The Working Group members served on one subgroup. The subgroups began meeting by teleconference in March 2011 and continued to hold calls every four to six weeks through fall 2011 to define the CDEs for their domains and to recommend standardized, validated instruments for HD research. The Huntington Disease CDE Oversight Committee was created in 2016.

Oversight Committee Members

  • Karen Anderson, MD
    Georgetown University Medical Center, Washington, District of Columbia
  • Kevin Biglan, MD, MPH
    University of Rochester, Rochester, New York
  • Noelle Carlozzi, PhD
    University of Michigan, Ann Arbor, Michigan
  • Blair Leavitt, MD
    The University of British Columbia, BC Children's Hospital Research Institute, British Columbia, Canada
  • Kathleen Shannon, MD
    University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin
  • Ira Shoulson, MD
    Georgetown University Medical Center, Washington, District of Columbia
  • Glenn Stebbins, PhD
    Rush University, Rush Medical College, Chicago, Illinois
  • Julie Stout, PhD
    Monash University, Melbourne, Australia

Working Group Co-Chairs

  • Ira Shoulson, MD
    Georgetown University, Washington, District of Columbia
  • Julie Stout, PhD
    Monash University, Melbourne, Australia

Behavior/Psychiatry

  • Karen Anderson, MD
    University of Maryland School of Medicine, Baltimore, Maryland
    Chair
  • David Craufurd, MB, BS, MSc, FRCPsych
    The University of Manchester School of Medicine, Manchester, United Kingdom
  • Mark Groves, MD
    Beth Israel Medical Center, Phillips Ambulatory Care Center, New York, New York
  • Erik van Duijn, MD, PhD
    Leiden University Medical Center, Leiden, Netherlands
  • Daniel van Kammen, MD, PhD
    CHDI Foundation, Inc., New York, New York

Biochemical Markers

  • Blair Leavitt, MD, CM, FRCPC
    The University of British Columbia, BC Children's Hospital, British Colombia, Canada
    Chair
  • Beth Borowsky, PhD
    CHDI Foundation, Inc., New York, New York
  • Steven Hersch, MD, PhD
    Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
  • Ruth Luthi-Carter, PhD
    ?cole Polytechnique F?d?rale de Lausanne, Luasanne, Switzerland
  • Oksana Suchowersky, MD, PhD, FRCP
    University of Calgary, Calgary, Canada
  • Sarah Tabrizi, MD, PhD, FRCP
    UCL Institute of Neurology, National Hospital of Neurology and Neurosurgery, London, United Kingdom

Cognitive

  • Jennifer Thompson, PhD
    Greater Manchester Neuroscience Centre, Salford, United Kingdom
    Chair
  • Leigh Beglinger, PhD
    University of Iowa, Carver College of Medicine, Iowa City, Iowa
  • Peter Como, PhD
    U.S. Food and Drug Administration, Washingotn, District of Colombia
  • Deborah Harrington, Ph.D
    University of California San Diego, Ad hoc member, San Diego, California
  • Sarah Queller, PhD
    Queller Consulting, Saint Petersburg, Florida
  • Megan Smith, Ph.D
    The University of Iowa, Ad hoc member, Iowa City, Iowa
  • Glenn Stebbins, PhD
    Rush University, Rush Medical College, Chicago, Illinois
  • Julie Stout, PhD
    Monash University, Melbourne, Australia

Epidemiology/Environment

  • Caroline Tanner, MD, PhD
    The Parkinson's Institute, Sunnyvale, California
    Chair
  • Monica Busse, PhD
    Cardiff University, Cardiff, United Kingdom
  • Elan Louis, MD, MSc
    Columbia University, Mailman School of Public Health, New York, New York
  • Karen Marder, MD, MPH
    Columbia University, College of Physicians and Surgeons, New York, New York
  • Brad Racette, MD
    Washington University School of Medicine, St Louis, Missouri

Functional Outcomes/Patient Reported Outcomes

  • Jody Corey-Bloom, MD, PhD
    University of California San Diego, San Diego, California
    Chair
  • Noelle Carlozzi, PhD
    The Center for Rehabilitation Outcomes and Assessment Research, University of Michigan, Ann Arbor, Michigan
  • Aileen Ho, PhD
    University of Reading, Earley Gate, Reading, United Kingdom
  • Bernhard Landwehrmeyer, MD, PhD
    University of Ulm, Ulm, Germany
  • Jane Paulsen, PhD
    University of Iowa, Carver College of Medicine, Iowa City, Iowa
  • Lori Quinn, PT, EdD
    Cardiff University, Cardiff, United Kingdom
  • David Tulsky, Ph.D.
    University of Michigan Medical School, Ann Arbor, Michigan

Genetics

  • Tatiana Foroud, PhD
    Indiana University School of Medicine, Indianapolis, Indiana
    Chair
  • James Gusella, PhD
    Massachusetts General Hospital, Center for Human Genetic Research, Boston, Massachusetts
  • Lesley Jones, PhD
    Cardiff University School of Medicine, Cardiff, United Kingdom

Imaging Biomarkers

  • Elizabeth Aylward, PhD
    Seattle Children's Research Institute, Seattle, Washington
    Chair
  • Andrew Feigin, MD
    New York University School of Medicine, New York, New York
  • Nellie Georgiou-Karistianis, PhD
    Monash University, Melbourne, Australia
  • Diana Rosas, MD
    Massachusetts General Hospital, Boston, Massachusetts
  • Christopher Ross, MD, PhD
    The Johns Hopkins University, Baltimore, Maryland
  • Rachel Scahill, MA, PhD
    UCL Institute of Neurology, London, United Kingdom

Motor

  • Kevin Biglan, MD
    University of Rochester School of Medicine and Dentistry, Rochester, New York
    Chair
  • Joanne Fielding, PhD
    Monash Medical Centre, Clayton, Australia
  • Joseph Jankovic, MD
    Baylor College of Medicine, Houston, Texas
  • Ralf Reilmann, MD
    University Clinic Muenster, Munster, Germany
  • Kathleen Shannon, MD
    University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin

Operations

  • Elise Kayson, MS, RNC, ANP
    University of Rochester, Rochester, New York
    Chair
  • Lisa deBlieck, MPA, CCRC
    University of Rochester, Rochseter, New York
  • Terry Tempkin, RNC, MSN, ANP
    University of California Davis Medical Center, Sacremento, California

Pathology

  • Jean Paul Vonsattel, PhD
    Children's Hospital of New York-Presbyterian, New York, New York
    Chair
  • Marian DiFiglia, MD, PhD
    Massachusetts General Hospital, Boston, Massachusetts
  • Carol Moskowitz, MS, APRN-C, CNRN
    Columbia University HD Center, New York, New York
  • Raymund Roos, MD
    Leiden University Medical Center, Leiden, Netherlands
  • Clifford Saper, MD, PhD
    Harvard Medical School and Beth Israel Deaconess Medical Center, Boston, Massachusetts
  • Leslie Thompson, PhD
    University of California, Irvine, Irvine, California

Scale Metrics and Statistics

  • Doug Langbehn, MD, PhD
    University of Iowa, Carver College of Medicine, Iowa City, Iowa
    Chair
  • Peggy Auinger, M.S.
    University of Rochester, Rochseter, New York
  • Kenneth Evans, PhD
    Ontario Cancer Biomarker Network, Toronto, Canada
  • Michael McDermott, PhD
    University of Rochester Medical Center, Rochester, New York
  • John Warner, PhD
    CHDI Foundation, Inc., New York, New York

NINDS CDE Team

  • Codrin Lungu, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • M. Carolina Mendoza-Puccini, MD
    Scientific Program Specialist, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Daniel Miller, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Debra Babcock, MD, PhD (Until 2017)
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Joanne Odenkirchen, MPH (Until 2016)
    NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Beth-Anne Sieber, PhD (Until 2017)
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Joy Esterlitz, MS
    The Emmes Corporation
  • Robin Feldman, BS, MBA
    The Emmes Corporation
  • Kristen Joseph, MA
    The Emmes Corporation
  • Muniza Sheikh, MS/MBA
    The Emmes Corporation
  • Sherita Ala'i Hansen, MS (Until 2018)
    The Emmes Corporation
  • Lisa Hunegs, MSW, MPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Megan Schmidt
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland

References

A publication related to the HD CDE initiative is in development. The citation for this publication will be included on this site as soon as it is available.

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.

Huntington's Disease CDEs Revision History