Myotonic Dystrophy

Data Standards

Organized by domains and subdomains often used in clinical studies, data standards include:

•         CDEs — Classified as Core, Supplemental–Highly Recommended, Supplemental, or Exploratory

•         CRF Modules — Template forms that logically organize CDEs for data collection

•         Guidance Documents — Provide further information about the CDEs

•         Instrument Notice of Copyright (NOC) Documents — Include pertinent information on recommended instruments (Instrument Notice of Copyright Information)

Myotonic Dystrophy Start-up Resource Listing: All Core and Supplemental–Highly Recommended CDEs recommended for Myotonic Dystrophy study start-up

Myotonic Dystrophy Highlight Summary: Overview of all Myotonic Dystrophy-specific CDE recommendations as they appear on the website

Click Expand All to view the CDEs associated with the CRF modules, organized by domain and subdomain.

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NIH Resources
NIH Resources
CRF Module/Guidance CDEs
National Institutes of Health (NIH) Toolbox N/A
Patient-Reported Outcomes Measurement Information System (PROMIS) N/A
Quality of Life in Neurological Disorders (Neuro-QOL) N/A
Overview of Working Group Recommendations
Summary Documents
CRF Module/Guidance CDEs
Summary of Recommendations for DM N/A
Participant Characteristics
Demographics
CRF Module/Guidance CDEs
General Core CDE Details
Demographics CDE Details
Social Status
CRF Module/Guidance CDEs
Social Status CDE Details
Participant History and Family History
General Health History
CRF Module/Guidance CDEs
Family History CDE Details
Medical History CDE Details
Assessments and Examinations
Imaging Diagnostics
CRF Module/Guidance CDEs
Cardiac Magnetic Resonance Imaging (MRI) CDE Details
Magnetic Resonance Imaging (MRI) CDE Details
Echocardiogram CDE Details
Non-Imaging Diagnostics
CRF Module/Guidance CDEs
Electrocardiogram (ECG) CDE Details
Electrophysiology CDE Details
Holter Examination CDE Details
Laboratory Tests and Biospecimens/Biomarkers
CRF Module/Guidance CDEs
Myotonic Dystrophy (DM) Laboratory Tests and Recommendations N/A
Laboratory Tests and Tracking CDE Details
Laboratory Tests Recommendations Table and Guidelines for Use N/A
Muscle Biopsy and Autopsy Tissue CDE Details
Mutation Analysis CDE Details
Physical/Neurological Examination
CRF Module/Guidance CDEs
Bedside Myotonia N/A
Evoked Myotonia through Electrical Stimulation N/A
Other Clinical Data
CRF Module/Guidance CDEs
Non-Dystrophic Myotonia Interactive Voice Response (IVR) Diary CDE Details
Treatment/Intervention Data
Therapies
CRF Module/Guidance CDEs
Respiratory Interventions CDE Details
Outcomes and End Points
Muscle Strength Testing
CRF Module/Guidance CDEs
Grip Strength Fatigue CDE Details
Hand Held Dynamometry CDE Details
Manual Muscle Testing-Using the Medical Research Council Muscle Grading Scale CDE Details
Maximum Voluntary Isometric Contraction (MVIC) N/A
Pediatric
CRF Module/Guidance CDEs
Pediatric Quality of Life Inventory (PEDSQL) N/A
Pediatric Quality of Life Inventory Neuromuscular Module N/A
Pulmonary Function Testing/Respiratory Status
CRF Module/Guidance CDEs
Pulmonary Assessment Master Outline and Guidelines for Use N/A
Pulmonary Function Testing CDE Details
Measures of Gas Exchange CDE Details
Quality of Life/Patient Reported Outcomes
CRF Module/Guidance CDEs
Short Form 36-Item Health Survey (SF-36) N/A
Individualized Neuromuscular Quality of Life Questionnaire (INQoL) N/A
Patient-Reported Outcomes Measurement Information System (PROMIS) N/A
Quality of Life in Neurological Disorders (Neuro-QOL) N/A
Sickness Impact Profile (SIP) N/A
Functional Outcomes
CRF Module/Guidance CDEs
10 Meter Timed Walk N/A
2 Minute Walk Test N/A
6 Minute Walk Test N/A
Barthel Index N/A
Gross Motor Function Measure (GMFM-88, GMFM-66) N/A
Jebsen-Taylor Hand Function Test N/A
Nine Hole Peg Test N/A
Purdue Pegboard N/A
Stair Climb N/A
Timed Up and Go (TUG) N/A
Pain
CRF Module/Guidance CDEs
McGill Pain Questionnaire (MPQ) N/A
Multifactorial Patient Reported Burden of Disease
CRF Module/Guidance CDEs
Myotonic Dystrophy Health Index (MDHI) N/A
Performance Measures
CRF Module/Guidance CDEs
Wechsler Abbreviated Scale of Intelligence (WASI) N/A

Prospective Assessments for Suicidal Ideation and Behavior

Investigators should review the FDA’s "Guidance for Industry: Suicidal Ideation and Behavior: Prospective Assessment of Occurrence in Clinical Trials” for the most up-to-date information about suicidal ideation and behavior. One scale that FDA suggests is the Columbia Suicide Severity Rating Scale (C-SSRS) (available at https://cssrs.columbia.edu/).

Instrument Notice of Copyright Information

The NINDS CDE Team does not post proprietary instruments/scales recommended by the CDE Working Groups on this website. This includes, but is not limited to, copyrighted or trademarked instruments/scales. Information about recommended instruments can be found in the Notice of Copyright (NOC) documents under ‘CRF Module/Guidance’ on each disorder’s data standards page. For any questions regarding these instruments/scales please contact the corresponding owner/author. The NINDS CDE Team is not responsible for the availability or content of these external sites, nor does the NINDS CDE Team endorse, warrant or guarantee the products, services or information described or offered at these other internet sites.

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.

Roster

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

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

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

NINDS CDE Team

  • Sherita Ala'i , MS (Until 2018)
    The Emmes Company, LLC
  • Joy Esterlitz (Until 2020)
    The Emmes Company, LLC
  • Robin Feldman, BS, MBA
    The Emmes Company, LLC
  • Muniza Sheikh, MS, MBA
    The Emmes Company, LLC

Publications

A publication related to the Myotonic Dystrophy CDE initiative will be written at a later date. 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