Spinal Muscular Atrophy

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)

Spinal Muscular Atrophy Start-up Resource Listing:  All Core and Supplemental–Highly Recommended CDEs recommended for Spinal Muscular Atrophy study start-up

Spinal Muscular Atrophy Highlight Summary: Overview of all Spinal Muscular Atrophy-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
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 - SMA CDE Details
Medical History - SMA CDE Details
Prenatal and Perinatal History - SMA CDE Details
Surgical and Hospitalization History - SMA CDE Details
Disease/Injury Related Events
History of Disease/Injury Event
CRF Module/Guidance CDEs
Medical History of SMA - SMA CDE Details
Motor Milestones and Current Level of Function - SMA CDE Details
Assessments and Examinations
Laboratory Tests and Biospecimens/Biomarkers
CRF Module/Guidance 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
NINDS Repository Spinal Muscular Atrophy Data Elements CDE Details
Peripheral Nerves - Biopsies and Autopsies CDE Details
Skin Biopsies for Qualification of Intraepidermal Nerve Fibers CDE Details
Imaging Diagnostics
CRF Module/Guidance 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/Guidance CDEs
Electrocardiogram (ECG) CDE Details
Electrophysiology CDE Details
Holter Examination CDE Details
Physical/Neurological Examination
CRF Module/Guidance CDEs
Physical Examination CDE Details
Polysomnography CDE Details
Vital Signs and Other Body Measures
CRF Module/Guidance CDEs
Vital Signs CDE Details
Treatment/Intervention Data
Devices
CRF Module/Guidance CDEs
External Devices - SMA CDE Details
Therapies
CRF Module/Guidance CDEs
Gastrointestinal Therapies CDE Details
Respiratory Interventions CDE Details
Outcomes and End Points
Pediatric
CRF Module/Guidance CDEs
Pediatric Evaluation of Disability Inventory (PEDI) N/A
Pediatric Cognitive Instrument Recommendations by Domain and Classification N/A
Bayley Scales of Infant Development (Bayley III, BSID) N/A
Pediatric Cognitive Instrument Table N/A
SMA Pediatric Clinical Outcomes Recommendations by Domain and Classification - SMA N/A
Muscle Strength Testing
CRF Module/Guidance CDEs
Pinch Strength N/A
Manual Muscle Testing-Using the Medical Research Council Muscle Grading Scale CDE Details
Maximum Voluntary Isometric Contraction (MVIC) N/A
Functional Outcomes
CRF Module/Guidance CDEs
10 Meter Timed Walk N/A
6 Minute Walk Test N/A
Grip Strength CDE Details
North Star Ambulatory Assessment (NSAA) N/A
Purdue Pegboard N/A
Timed Up and Go (TUG) N/A
Quality of Life/Patient Reported Outcomes
CRF Module/Guidance CDEs
Canadian Occupational Performance Measure (COPM) N/A
Nine Hole Peg Test N/A
Pediatric Quality of Life Inventory (PEDSQL) N/A
Short Form 36-Item Health Survey (SF-36) N/A
Emotional and Cognitive Status
CRF Module/Guidance CDEs
Cognitive Guidelines for Use N/A
End Points
CRF Module/Guidance CDEs
Death Report CDE Details
Pulmonary Function Testing/Respiratory Status
CRF Module/Guidance 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/Guidance CDEs
SMA Adult Clinical Outcomes Recommendations by Domain and Classification - SMA 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

The first set of Common Data Elements (CDEs) for Spinal Muscular Atrophy was developed in 2011.

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. 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 formed prior to the Neuromuscular Diseases CDE Working Group was focused on developing Congenital Muscular Dystrophy (CMD) CDEs for a natural history study. These CDEs 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

 

Spinal Muscular Atrophy (SMA) Working Group

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

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
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Kristy Miller, MPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland
  • Christina You, MSPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland

Publications

A publication related to the Spinal Muscular Atrophy 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.

Spinal Muscular Atrophy CDE Revision History Document