Myotonic Dystrophy

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 Myotonic Muscular Dystrophy 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 domains and sub-domains, often used in clinical studies, data standards include:

An overview of all Myotonic Muscular Dystrophy CDE recommendations can be found in the Myotonic Muscular Dystrophy CDE Highlight Summary document. For your reference, a zip file containing all the current Myotonic Muscular Dystrophy 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.

Overview of Working Group Recommendations
Summary Documents
CRF Module/Guideline CDEs
Summary of Recommendations for DM N/A
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
General Health History
CRF Module/Guideline CDEs
Family History CDE Details
Medical History CDE Details
Treatment/Intervention Data
Therapies
CRF Module/Guideline CDEs
Respiratory Interventions CDE Details
Outcomes and End Points
Pain
CRF Module/Guideline CDEs
McGill Pain Questionnaire (MPQ) N/A
Multifactorial Patient Reported Burden of Disease
CRF Module/Guideline CDEs
Myotonic Dystrophy Health Index (MDHI) N/A
Performance Measures
CRF Module/Guideline CDEs
Wechsler Abbreviated Scale of Intelligence (WASI) N/A

Overview

To develop the Myotonic Muscular Dystrophy (DM) CDEs, the DM CDE Working Group met from April 2014 to October 2014. The recommendations were posted for public comment in November 2014 and version 1.0 was released at the end of February 2015.

History and Acknowledgements

The Myotonic Dystrophy (DM) CDE Working Group has developed the CDEs for their recommendations. The DM CDE Working Group is supported by the NINDS CDE Team. The Working Group began meeting by teleconference in May 2014 and held calls every four to six weeks to define the CDEs for their domains and to recommend standardized, validated instruments for DM research.

Complete Myotonic Dystrophy (DM) CDE Roster

The complete DM CDE Working Group roster is shown below.

MMD Working Group

  • Tetsuo Ashizawa, MD
    Houston Methodist Hospital, Houston, Texas
  • Richard J. Barohn, MD
    University of Kansas Medical Center, Kansas City, Kansas
  • Kathie M. Bishop, PhD
    Isis Pharmaceuticals, Carlsbad, California
  • John W. Day, MD, PhD
    Stanford University Medical Center, Stanford, California
  • Pr. Bruno Eymard, MD, PhD
    Institut de Myologie, Paris, France
  • William Groh, PhD
    University of South Carolina, Columbia, South Carolina
  • Chad Heatwole, MD
    University of Rochester Medical Center, Rochester, NY, USA
  • Laura Herbelin
    University of Kansas Medical Center, Kansas City, Kansas
  • William Bruce Martens
    University of Rochester Medical Center, Rochester, New York
  • Giovanni Meola, MD, PhD
    University of Milan, San Donato Milanese, Italy
  • Richard T. Moxley III, MD
    University of Rochester Medical Center, Rochester, New York
  • Shreedevi Pandya , PT, DPT, MS
    University of Rochester Medical Center, Rochester, New York
  • Jack Puymirat, MD, PhD
    University of Laval, Quebec, Canada
  • Benedikt Schoser, MD
    Ludwig-Maximillians University of Munich, Friedrich Baur Institute, Munich, Germany
  • Bjarne Udd, MD, PhD
    Tampere University and University Hospital, Tampere, Finland

NIH Coordinating Team

  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, USA
  • Elizabeth McNeil, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Glen Nuckolls, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, USA (2014 - present)
  • Joanne Odenkirchen, MPH (Until 2016)
    NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, MD, USA
  • Yaffa Rubinstein, PhD
    National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland
  • Tiina K. Urv, PhD
    National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland

NINDS CDE Team

  • Sherita Ala'i , MS (Until 2018)
    The Emmes Corporation
  • Joy Esterlitz
    The Emmes Corporation
  • Robin Feldman, BS, MBA
    The Emmes Corporation
  • Muniza Sheikh, MS, MBA
    The Emmes Corporation

References

A publication related to the Myotonic Dystrophy 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.

Myotonic Dystrophy CDE Revision History Document