Spinal Muscular Atrophy

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 Spinal Muscular Atrophy 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 Spinal Muscular Atrophy CDE recommendations can be found in the Spinal Muscular Atrophy CDE Highlight Summary document. For your reference, a zip file containing all of the Spinal Muscular Atrophy CDE CRF modules, instrument recommendations, and guideline documents can be downloaded below.

Participant Characteristics
Demographics
CRF Module/Guideline CDEs
General Core CDE Details
Demographics CDE Details
Social Status
CRF Module/Guideline CDEs
Social Status CDE Details
Disease/Injury Related Events
Treatment/Intervention Data
Devices
CRF Module/Guideline CDEs
External Devices - SMA CDE Details
Outcomes and End Points

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.

Another Working Group was form prior to the Neuromuscular Diseases CDE Working Group and was focused on developing Congenital Muscular Dystrophy (CMD) CDEs for a natural history study. These CDEs are not incorporated with the NMD Diseases CDEs but are available as a zip file on the NMD data standards page.

History and Acknowledgements

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

 

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

NINDS CDE 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
  • Sherita Ala'I, MS (Until 2018)
    The Emmes Corporation
  • 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
  • Christina You, MSPH (Until 2012)
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland

References

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.

Spinal Muscular Atrophy CDE Revision History Document