Neuromuscular Diseases

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 Neuromuscular Diseases 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:

The data standards for the Neuromuscular Diseases were formed by unique Working Groups: Neuromuscular Diseases (NMD), Congenital Muscular Dystrophy (CMD), Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DMD/BMD), Facioscapulohumeral muscular dystrophy (FSHD), Myasthenia Gravis (MG), Myotonic Dystrophy (MMD), and Spinal Muscular Atrophy (SMA).

Please view additional tabs for more information about the development of these CDEs.

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

NIH Resources
NIH Resources
CRF Module/Guideline 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
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
Prenatal and Perinatal History CDE Details
Surgical History CDE Details
Disease/Injury Related Events
History of Disease/Injury Event
CRF Module/Guideline CDEs
Medical History of NMD CDE Details
Assessments and Examinations
Laboratory Tests and Biospecimens/Biomarkers
CRF Module/Guideline CDEs
Biomarkers Sample Data Guidelines N/A
Biospecimen Collection Guidelines for Use N/A
Fat Aspirate Tissue Specimens CDE Details
Gene Table and Guidelines for Use 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
Peripheral Nerves - Biopsies and Autopsies CDE Details
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers CDE Details
Imaging Diagnostics
CRF Module/Guideline CDEs
Brain Magnetic Resonance Imaging (MRI) CDE Details
Cardiac Magnetic Resonance Imaging (MRI) CDE Details
Diffusion Tensor Imaging (DTI) CDE Details
Dual-Energy X-Ray Absorptiometry (DEXA) CDE Details
Echocardiogram CDE Details
Magnetic Resonance Imaging (MRI) CDE Details
Magnetic Resonance Spectroscopy (MRS) CDE Details
Non-Imaging Diagnostics
CRF Module/Guideline CDEs
Electrocardiogram (ECG) CDE Details
Electrophysiology CDE Details
Holter Examination CDE Details
Physical/Neurological Examination
CRF Module/Guideline CDEs
Physical Examination CDE Details
Polysomnography CDE Details
Vital Signs and Other Body Measures
CRF Module/Guideline CDEs
Vital Signs CDE Details
Treatment/Intervention Data
Therapies
CRF Module/Guideline CDEs
Gastrointestinal Therapies CDE Details
Respiratory Interventions CDE Details
Outcomes and End Points
Muscle Strength Testing
CRF Module/Guideline CDEs
Hand Held Dynamometry CDE Details
Pinch Strength N/A
Manual Muscle Testing-Using the Medical Research Council Muscle Grading Scale CDE Details
Maximum Voluntary Isometric Contraction Testing (MVICT) N/A
Grip Strength CDE Details
Pediatric
CRF Module/Guideline CDEs
Pediatric Cognitive Instrument Recommendations by Domain and Classification N/A
Bayley Scales of Infant Development (Bayley III, BSID) N/A
Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) CDE Details
California Verbal Learning Test - Children (CVLT-C) CDE Details
Child Behavior Checklist (CBCL) N/A
Clinical Evaluation of Language Fundamentals - Fifth Edition (CELF-5) N/A
Comprehensive Test of Phonological Processing (CTOPP) N/A
Mullen Scales of Early Learning (MSEL) N/A
Peabody Picture Vocabulary Test 4th Edition (PPVT?-4) N/A
Pediatric Cognitive Instrument Table N/A
Pediatric Evaluation of Disability Inventory (PEDI) N/A
Social Communication Questionnaire (SCQ) N/A
Social Skills Rating Scale (SSRS) N/A
Tasks of Executive Control (TEC) CDE Details
Wechsler Abbreviated Scale of Intelligence (WASI) N/A
Wechsler Intelligence Scale for Children-V (WISC-V) N/A
Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III) N/A
Wide Range Assessment of Memory and Learning, Second Edition (WRAML-2) CDE Details
Woodcock-Johnson III Test of Cognitive Abilities CDE Details
Functional Outcomes
CRF Module/Guideline CDEs
10 Meter Timed Walk N/A
6 Minute Walk Test N/A
Barthel Index N/A
Jebsen-Taylor Hand Function Test N/A
Purdue Pegboard N/A
Stair Climb N/A
Timed Up and Go (TUG) N/A
Assessing Comorbidities
CRF Module/Guideline CDEs
Child Health Questionnaire (CHQ) N/A
Emotional and Cognitive Status
CRF Module/Guideline CDEs
Cognitive Guidelines for Use N/A
McGill Pain Questionnaire (MPQ) N/A
End Points
CRF Module/Guideline CDEs
Death Report CDE Details
Quality of Life/Patient Reported Outcomes
CRF Module/Guideline CDEs
EuroQoL-5 Dimension Questionnaire (EQ-5D) CDE Details
Nottingham Health Profile (NHP) N/A
Quality of Life in Neurological Disorders (Neuro-QOL) N/A
Short Form 36-Item Health Survey (SF-36) CDE Details
Pulmonary Function Testing/Respiratory Status
CRF Module/Guideline CDEs
Measures of Gas Exchange CDE Details
Pulmonary Assessment Master Outline and Guidelines for Use N/A
Pulmonary Function Testing CDE Details
Summary of All Outcome Recommendations
CRF Module/Guideline CDEs
NMD Clinical Outcome Recommendations by Domain and Classification N/A
Other Non-Motor
CRF Module/Guideline CDEs
Quantitative Sudomotor Axon Reflex Test (QSART) 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 http://www.cssrs.columbia.edu).

Accessibility Statement

The NINDS CDE Team has requested, and in many cases received, permission to post proprietary instruments/scales recommended by the CDE Working Groups to this site. When permission is granted, the documents are posted in the exact format they were received in order to maintain the validity of the instrument. If approval is not granted for the instrument to be reproduced on this site, with the author/copyright holder’s permission, a link is posted to an external Web site where users can get more information about the instrument. If you have difficulty accessing either the proprietary instruments/scales or the external links, please contact the NINDS Office of Clinical Research at carolina.mendoza-puccini@nih.gov.

Overview

In order to create a comprehensive set of CDEs for Neuromuscular Diseases, the NINDS formed the following unique Working Groups: Neuromuscular Diseases (NMD), Myasthenia Gravis (MG), Spinal Muscular Atrophy (SMA), and Duchenne/Becker Muscular Dystrophy (DMD/BMD).

The NMD CDE Working Group’s goal was to identify elements that would be useful across multiple types of NMD Clinical Studies. In order to achieve this objective, the NMD Working Group was divided into two focus areas – Adult studies and Pediatric studies. In both the Adult and Pediatric areas, subgroups were formed to focus on defining data elements in the domains of:

  • Biomarkers/Genetics/Imaging
  • Cardiac/Pulmonary
  • Clinical Outcomes
  • Cognitive/Behavioral/Psychological Assessments
  • Demographics

While the Adult and Pediatric Working Groups initially worked separately, their age-specific NMD recommendations were later combined to form Version 1.0 of the NMD CDEs.

Additionally, the NINDS formed Working Groups to develop recommendations specific for Spinal Muscular Atrophy (SMA), Myasthenia Gravis (MG), and Duchenne and Becker Muscular Dystrophy (DMD/BMD). These three Working Groups were responsible for reviewing the NMD CDEs and forming disease-specific recommendations to supplement the overarching Neuromuscular Diseases CDEs.

Prior to these NMD Working Groups, a Congenital Muscular Dystrophy (CMD) Working Group was developed in 2010 focusing on CDEs for a natural history study in CMD. These CDEs are not incorporated with the NMD Diseases CDEs but are available as a zip file on the CMD Overview page.

Roster

The National Institute of Neurological Disorders and Stroke (NINDS) has formed an Oversight Committee to direct the updating and further development of Neuromuscular Diseases CDEs.

The Neuromuscular Diseases CDE Committee was formed first and focused on a set of general CDE recommendations to be utilized in clinical research across all neuromuscular diseases. Additional CDE Working Groups were subsequently formed to develop disease-specific recommendations for:

All three Working Groups (MG, SMA, and DMD/BMD) were charged with reviewing the combined Adult and Pediatric NMD CDEs to determine the additional elements needed for an MG, SMA, or DMD/BMD specific study.

All Working Group members actively developed the CDEs for their specific disease areas/subgroups and had an opportunity to review and comment on the draft recommendations internally prior to public review and posting. The NMD, MG, SMA, and DMD/BMD CDE Working Groups are supported by the NINDS CDE Team. The complete rosters for each Working Group and the rosters by NMD Subgroup are shown below. The Neuromuscular Diseases CDE Oversight Committee was created in 2013.

Complete Adult NMD Working Group Roster

Complete Pediatric NMD Working Group Roster

Complete Myasthenia Gravis (MG) Working Group Roster

Complete Spinal Muscular Atrophy (SMA) Working Group Roster

Complete Duchenne and Becker Muscular Dystrophy Working Group Roster

Complete NMD Oversight Committee Roster

CMD Working Group

  • Angela Giacoletti Argento, PhD
    University of Michigan Hospital and Health Systems, Ann Arbor, Michigan
  • Carsten BÖnnemann, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Jim J. Collins, MD, PhD
    Cincinnati Children's Medical Center, Cincinnati, Ohio
  • James Dowling, MD, PhD
    The Hospital for Sick Children, Toronto, Canada
  • Susan T. Iannaccone, MD, FAAN
    University of Texas Southwestern Medical Center, Dallas, Texas
  • Chamindra Konersman, MD
    Medical College of Wisconsin, Milwaukee, Wisconsin
  • Michael W. Lawlor, MD, PhD
    Medical College of Wisconsin, Milwaukee, Wisconsin
  • Kathy Mathews, MD
    University of Iowa Children's Hospital, Iowa City, Iowa
  • Francesco Muntoni, MD
    University College London, Institute of Child Health-Dubowitz, London, United Kingdom
  • Susan E. Sparks, MD, PhD
    Levine Children's Hospital, Charlotte, North Carolina

Oversight Committee Members for all Neuromuscular Diseases

  • Laurie Gutmann, MD
    University of Iowa, Iowa City, Iowa
    Co-Chair
  • Laurie Gutmann, MD
    University of Iowa, Iowa City, Iowa
    Co-Chair
  • Richard T. Moxley, III, MD
    University of Rochester, Rochester, New York
    Co-Chair
  • Richard T. Moxley, III, MD
    University of Rochester, Rochester, New York
    Co-Chair
  • Katie Bushby, MD
    Newcastle University/ Institute of Human Genetics, Newcastle, United Kingdom
  • Valerie Cwik, MD
    Muscular Dystrophy Association ? USA National Headquarters, Tucson, Arizona
  • Richard S. Finkel, MD
    University of Central Florida College of Medicine, Orlando, Florida
  • Julaine M. Florence, PT, MHS, DPT
    Washington University School of Medicine, St. Louis, Missouri
  • Henry Kaminski, MD
    George Washington University, Washington, District of Colombia
  • Katherine Mathews, MD
    University of Iowa Children's Hospital, Iowa City, Iowa
  • Michael Shy, MD
    University of Iowa, Iowa City, Iowa
  • Tetsuo Ashizawa, MD
    Houston Methodist Hospital, Houston, Texas
  • Katie Bushby, MD
    Newcastle University/ Institute of Human Genetics, Newcastle, United Kingdom
  • Valerie Cwik, MD
    Muscular Dystrophy Association ? USA National Headquarters, Tucson, Arizona
  • Richard S. Finkel, MD
    University of Central Florida College of Medicine, Orlando, Florida
  • Julaine M. Florence, PT, MHS, DPT
    Washington University School of Medicine, St. Louis, Missouri
  • Susan T. Iannaccone, MD, FAAN
    University of Texas Southwestern Medical Center, Dallas, Texas
  • Henry Kaminski, MD
    George Washington University, Washington, District of Colombia
  • Jane Larkindale, PhD
    Critical Path Institute, Tucson, Arizona
  • Michael W. Lawlor, MD, PhD
    Medical College of Wisconsin, Milwaukee, Wisconsin
  • Katherine Mathews, MD
    University of Iowa Children's Hospital, Iowa City, Iowa
  • Benedikt Schoser, MD
    Friedrich Baur Institute, Ludwig-Maximillians University of Munich, Munich, Germany
  • Michael Shy, MD
    University of Iowa, Iowa City, Iowa
  • Rabi Tawil, MD
    University of Rochester Medical Center, Rochester, New York
  • Kathryn R. Wagner, MD, PhD
    Kennedy Krieger Institute, Baltimore, Maryland
  • Gil Wolfe, MD
    University of Buffalo, Buffalo, New York
  • Gil Wolfe, MD
    University of Buffalo, Buffalo, New York
  • Tetsuo Ashizawa, MD
    Houston Methodist Hospital, Houston, Texas
  • Carsten BÖnnemann, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland (Ad Hoc Member)
  • Susan T. Iannaccone, MD, FAAN
    University of Texas Southwestern Medical Center, Dallas, Texas
  • Jane Larkindale, PhD
    Critical Path Institute, Tucson, Arizona
  • Michael W. Lawlor, MD, PhD
    Medical College of Wisconsin, Milwaukee, Wisconsin
  • Benedikt Schoser, MD
    Friedrich Baur Institute, Ludwig-Maximillians University of Munich, Munich, Germany
  • Rabi Tawil, MD
    University of Rochester Medical Center, Rochester, New York
  • Kathryn R. Wagner, MD, PhD
    Kennedy Krieger Institute, Baltimore, Maryland
  • Carsten BÖnnemann, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland (Ad Hoc Member)

Adult Working Group for NMD

  • Laurie Gutmann, MD
    University of Iowa, Iowa City, Iowa
    Co-Chair
  • Richard T. Moxley, III, MD
    University of Rochester, Rochester, New York
    Co-Chair

NIH Coordinating Team

  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), 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
  • Glen Nuckolls, PhD
    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
  • 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

Adult Biomarkers/Imaging/Genetics for NMD

  • Richard T. Moxley, III, MD
    University of Rochester, Rochester, New York
    Chair
  • Reggie Edgerton, PhD
    University of California Los Angeles, Los Angeles, California
  • Eric Hoffman, PhD
    Children's National Medical Center, Washington, District of Columbia
  • Henry Kaminski, MD
    George Washington University, Washington, District of Colombia
  • George Padberg, PhD
    University of Nijmegen Medical Centre, Nijmegen, The Netherlands
  • Michael Shy, MD
    University of Iowa, Iowa City, Iowa

NINDS CDE Team

  • Sherita Ala'i, MS (Until 2018)
    The Emmes Corporation
  • Joy Esterlitz, MS
    The Emmes Corporation
  • Robin Feldman, BS, MBA
    The Emmes Corporation
  • Muniza Sheikh, MS, MBA
    The Emmes Corporation
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Robin Conwit, MD
    National Institute of Neurological Disorders and Stroke (NINDS), 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
  • Elizabeth McNeil, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), 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
  • Elizabeth McNeil, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), 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
  • Elizabeth McNeil, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Carolina Mendoza-Puccini, MD
    Scientific Program Specialist, 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, Maryland
  • Glen Nuckolls, PhD
    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, Maryland
  • Glen Nuckolls, PhD
    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, Maryland
  • Glen Nuckolls, PhD
    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
  • Joanne Odenkirchen, MPH (Until 2016)
    NINDS CDE Project Officer, 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, MD, USA
  • Joanne Odenkirchen, MPH (Until 2016)
    NINDS CDE Project Officer, 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
  • Joanne Odenkirchen, MPH (Until 2016)
    NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • John Porter, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • John Porter, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • John Porter, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Sherita Ala'I, MS (Until 2018)
    The Emmes Corporation
  • Sherita Ala'I, MS (Until 2018)
    The Emmes Corporation
  • Sherita Ala'i, MS (Until 2018)
    The Emmes Corporation
  • Sherita Ala'i, MS (Until 2018)
    The Emmes Corporation
  • Sherita Ala'i, MS (Until 2018)
    The Emmes Corporation
  • Sherita Ala'I, MS (Until 2018)
    The Emmes Corporation
  • Marybeth Montoro, MPH, CPH (Until 2015)
    The Emmes Corporation
  • Lisa Hunegs, MSW, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Lisa Hunegs, MSW, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Lisa Hunegs, MSW, MPH Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Lisa Hunegs, MSW, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Lisa Hunegs, MSW, MPH (until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Lisa Hunegs, MSW, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland

Adult Cardiac and Pulmonary Assessment for NMD

  • John Kissel, MD
    The Ohio State University, Columbus, Ohio
    Chair
  • Noah Lechtzin, MD, MHS
    Johns Hopkins University, Baltimore, Maryland
  • Subha Raman, MD, MSEE
    The Ohio State University, Columbus, Ohio
  • Robert Sufit, MD
    Northwestern University, Chicago, Illinois
  • Rabi Tawil, MD
    University of Rochester, Rochester, New York

Adult Clinical Outcomes for NMD

  • Laura Herbelin, BS
    The University of Kansas Medical Center, Kansas City, Kansas
    Chair
  • Anthony Amato, MD
    Brigham and Women's Hospital, Boston, Massachusetts
  • Richard J. Barohn, MD
    The University of Kansas Medical Center, Kansas City, Kansas
  • Ted Burns, MD
    University of Virginia, Charlottesville, Virginia
  • Julaine M. Florence, PT, MHS, DPT
    Washington University School of Medicine, St. Louis, Missouri
  • Michael Shy, MD
    University of Iowa, Iowa City, Iowa

Adult Cognitive/Behavioral/Psychological Assessments for NMD

  • Laurie Gutmann, MD
    University of Iowa, Iowa City, Iowa
    Chair
  • Gary Cutter, PhD
    University of Alabama Birmingham, Birmingham, Alabama
  • John W. Day, MD, PhD
    University of Minnesota Medical Center, Minneapolis, Minnesota
  • Chad Heatwole, MD
    University of Rochester, Rochester, New York
  • Veronica Hinton, PhD
    Columbia University, New York, New York
  • Mary Sano, PhD
    Mount Sinai School of Medicine, New York, New York

Pediatric Working Group for NMD

  • Susan T. Iannaccone, MD, FAAN
    University of Texas Southwestern Medical Center at Dallas, Dallas, Texas
    Co-Chair
  • Bill Martens, BA
    University of Rochester, Rochester, New York
    Co-Chair

Adult Demographics, Medical History/Lab Test for NMD

  • Kathy Kennely, MD
    Mayo Clinic - Jacksonville, Jacksonville, Florida
    Chair
  • William David, MD, PhD
    Massachusetts General Hospital, Boston, Massachusetts
  • Michael W. Lawlor, MD, PhD
    Medical College of Wisconsin, Milwaukee, Wisconsin
  • Larry Phillips, MD
    University of Virginia, Charlottesville, Virginia
  • Don Sanders, MD
    Duke University Medical Center, Durham, North Carolina
  • Gil Wolfe, MD
    University of Buffalo, Buffalo, New York

Pediatric Cardiac for NMD

  • Larry Markham, MD
    Vanderbilt Heart and Vascular Institute, Nashville, Tennessee
  • Elizabeth McNally, MD, PhD
    University of Chicago Medical Center, Chicago, Illinois
  • Ana Maria Rosales, MD
    Massachusetts General Hospital, Boston, Massachusetts
  • Jeffrey Towbin, MD
    Cincinnati Children's Medical Center, Cincinatti, Ohio

Pediatric Clinical Outcomes for NMD

  • Kristin Krosschell, PT, MA, PCS
    Northwestern University, Chicago, Illinois
    Co-Chair
  • Craig McDonald, MD
    University of Callifornia- Davis/Lawrence J. Ellison Ambulatory Care Center, Davis, California
    Co-Chair
  • Katie Bushby, MD
    Newcastle University/ Institute of Human Genetics, Newcastle, United Kingdom
  • Stefan Cano, PhD
    Clincal Neurology Research Group/Penninsula College of Medicine and Dentistry, Plymouth, United Kingdom
  • Michelle Eagle, PhD
    Institute of Genetics/Newcastle University, Newcastle, United Kingdom
  • Julaine M. Florence, PT, MHS, DPT
    Washington University, St. Louis, Missouri
  • Jackie Montes, PT, MA, NCS
    Columbia University Medical Center, New York, New York
  • Shree Pandya, PT, DPT, MS
    University of Rochester, Rochester, New York
  • Kathy Swoboda, MD
    University of Utah/Clinical Neuroscience Center, Salt Lake City, Utah
  • Elise Townsend, PT, DPT, PhD, PCS
    Massachusetts General Hospital, Boston, Massachusetts

Pediatric Cognitive for NMD

  • Veronica Hinton, PhD
    Columbia University, New York, New York
    Chair
  • Vanessa Batista, CPNP
    Boston Children's Hospital, Boston, Massachusetts
  • Jos Hendriksen, MD
    Epilepsy Center of Kempenhaeghe, Kempenhaeghe, Netherlands
  • Nancy Kuntz, MD
    Children's Hospital Northwestern/Children's Memorial Hospital, Chicago, Illinois
  • James Poysky, PhD
    Katy Child Psychology Associates, Katy, Texas

Pediatric Demographics; Medical History/Prior Health Status; Laboratory Tests/Vital Signs for NMD

  • Bill Martens, BA
    University of Rochester, Rochester, New York
    Chair
  • Charles Bailey, MD, PhD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Douglas Biggar, MD
    Holland Bloorview Hospital/ Bloorview Research Institute, Toronto, Canada
  • Chad Heatwole, MD
    University of Rochester, Rochester, New York
  • Leslie Nelson, PT, MPT, OCS
    UT Southwestern School of Health, Dallas, Texas
  • Yaffa Rubinstein, PhD
    National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland
  • Peter Schochet, MD
    UT Southwestern Medical Center at Dallas, Dallas, Texas

Pediatric Genetics and Biomarkers for NMD

  • James Dowling, MD, PhD
    University of Michigan/Dowling Laboratories, Ann Arbor, Michigan
    Co- Chair
  • Richard S. Finkel, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    Co- Chair
  • Carsten BÖnnemann, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Kevin Flanigan, MD
    Nationwide Children's Hospital Center for Gene Therapy, Columbus, Ohio
  • Reghan Foley, MD
    UCL Institute of Child Health/Dubowitz Neuromuscular Centre, London, United Kingdom
  • Brian Tseng, MD, PhD
    Massachusetts General Hospital, Boston, Massachusetts

Pediatric Imaging for NMD

  • Carsten BÖnnemann, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
    Co-Chair
  • Douglas Sproule, MD
    Columbia University, New York, New York
    Co-Chair
  • Leslie Morrison, MD
    University of New Mexico, Albuquerque, New Mexico
  • Krista Vandenborne, PT, PhD
    University of Florida, Gainesville, Florida

Pediatric Pulmonary Assessments for NMD

  • Mary Schroth, MD
    University of Wisconsin, Madison, Wisconsin
    Chair
  • David Birnkrant, MD
    Metro Health Medical Center, Washington, District of Colombia
  • Andrei Constantinescu, MD, PhD
    Columbia University, New York, New York
  • Jonathan Finder, MD
    Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania
  • Anastassios Koumbourlis, MD, MPH
    Children's National Medical Center, Washington, District of Columbia
  • Hank Mayer, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Daniel Sheehan, MD
    Children's Hospital of Buffalo, Buffalo, New York

Spinal Muscular Atrophy (SMA) Working Group

  • John Kissel, MD
    Ohio State University College of Medicine, Columbus, Ohio
    Chair
  • Michael Bosch, RN
    University of Iowa College of Public Health, Iowa City, Iowa
  • Thomas Crawford, MD
    The Johns Hopkins University, Baltimore, Maryland
  • Richard S. Finkel, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Kurt Fischbeck, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Trevis Huff, BS
    University of Iowa College of Public Health, Iowa City, Iowa
  • Susan T. Iannaccone, MD, FAAN
    University of Texas Southwestern Medical Center at Dallas, Dallas, Texas
  • Wendy King, PT
    Ohio State University, Columbus, Ohio
  • Kristin Krosschell, PT, MA, PCS
    Northwestern University, Chicago, Illinois
  • Jackie Montes, PT, MA, NCS
    Columbia University Medical Center, New York, New York
  • Mary Schroth, MD
    University of Wisconsin, Madison, Wisconsin
  • Douglas Sproule, MD
    Columbia University, New York, New York
  • Kathy Swoboda, MD
    University of Utah, Salt Lake City, Utah
  • Tiina Urv, PhD
    National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland

Myasthenia Gravis (MG) Working Group

  • Don Sanders, MD
    Duke University, Durham, North Carolina
    Co-Chair
  • Gil Wolfe, MD
    Jacobs Neurological Institute, Buffalo, New York
    Co-Chair
  • Fulvio Baggi, MD
    Carlo Besta Institute, Milan, Italy
  • Ted Burns, MD
    University of Virginia, Charlottesville, Virginia
  • Henry Kaminski, MD
    George Washington University, Washington, District of Colombia
  • Matt Meriggioli, MD
    University of Illinois College of Medicine at Chicago, Chicago, Illinois

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DMD/BMD) Working Group

  • Katherine Mathews, MD
    University of Iowa Children's Hospital, Iowa City, Iowa
    Chair
  • Katie Bushby, MD
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Kevin Flanigan, MD
    Nationwide Children's Hospital, Columbus, Ohio
  • Julaine M. Florence, PT, MHS, DPT
    Washington University School of Medicine, St. Louis, Missouri
  • Edward Kaye, MD
    SAREPTA Therapeutics, Cambridge, Massachusetts
  • Shree Pandya, PT, DPT, MS
    University of Rochester, Rochester, New York
  • Elise Townsend, DPT, PhD, PCS
    Massachusetts General Hospital, Boston, Massachusetts

Publications

A publication related to the NMD 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.

Neuromuscular Disease CDE Revision History Document