Friedreich's ataxia

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 Friedreich’s ataxia (FA) 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 FA CDE recommendations can be found in the FA CDE Highlight Summary document. For your reference, a zip file containing all the current FA 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.

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
Behavioral History CDE Details
Family History CDE Details
History Data Source and Reliability CDE Details
Medical History CDE Details
Pediatric Developmental History CDE Details
Pregnancy History CDE Details
Prenatal and Perinatal History CDE Details
Disease/Injury Related Events
History of Disease/Injury Event
CRF Module/Guideline CDEs
Medical History of Friedreich's Ataxia CDE Details
Assessments and Examinations
Imaging Diagnostics
CRF Module/Guideline CDEs
Cardiac Magnetic Resonance Imaging CDE Details
Echocardiogram CDE Details
Non-Imaging Diagnostics
CRF Module/Guideline CDEs
Electrocardiogram CDE Details
Holter Exam CDE Details
Laboratory Tests and Biospecimens/Biomarkers
CRF Module/Guideline CDEs
Laboratory Tests CDE Details
Plasma Collection Guidelines N/A
Urine Collection Guidelines N/A
Physical/Neurological Examination
CRF Module/Guideline CDEs
Physical Examination CDE Details
Vital Signs and Other Body Measures
CRF Module/Guideline CDEs
Vital Signs CDE Details
Treatment/Intervention Data
Drugs
CRF Module/Guideline CDEs
Prior and Concomitant Medications CDE Details
Outcomes and End Points
Activities of Daily Living/Performance
CRF Module/Guideline CDEs
Acoustic Analysis of Speech N/A
Activities of Daily Living and Gait CDE Details
Barthel Index N/A
Functional Independence Measure N/A
Jebsen-Taylor Hand Function Test N/A
PaTaKa Speech Test N/A
Stride Analysis and Gait Variability N/A
Ataxia and Performance Measures
CRF Module/Guideline CDEs
Assessment of Intelligibillity of Dysarthic Speech (AIDS) N/A
Bladder Control Scale (BLCS) CDE Details
Boston Diagnostic Aphasia Exam (BDAE-III) N/A
Bowel Control Scale (BWCS) CDE Details
Delis-Kaplan Executive Function System (D-KEFS) N/A
Friedreich's Ataxia Impact Scale (FAIS) CDE Details
Friedreich's Ataxia Rating Scale (FARS) CDE Details
Impact of Visual Impairment Scale N/A
International Cooperative Rating Scale (ICARS) N/A
Modified Fatigue Impact Scale (MFIS) CDE Details
MOS Pain Effects Scale (PES) Component of Multiple Sclerosis Quality of Life Inventory (MSQLI) N/A
Nine Hole Peg Test N/A
Phonemic Verbal Fluency (PVF) N/A
Scale for the Assessment and Rating of Ataxia N/A
Sloan Low Contrast Letter Acuity N/A
Tardieu Scale CDE Details
Timed 25-Foot Walk (T25-FW) CDE Details
Clinical Event End Points
CRF Module/Guideline CDEs
Cardiac End Points CDE Details
Summary of All Outcome Recommendations
CRF Module/Guideline CDEs
FA CDE Instrument Recommendations by Outcome Domain and Classification N/A
Quality of Life/Patient Reported Outcomes
CRF Module/Guideline CDEs
Pediatric Quality of Life Inventory (PEDSQL) CDE Details
Short Form 36-Item Health Survey (SF-36) CDE Details
Short Form Health Survey 10 for Children (SF-10) 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

To develop the Friedreich’s ataxia (FA) CDEs, the FA CDE Working Group divided into subgroups to focus on identifying and defining data elements in the domains of:

  • Ataxia and Performance Measures
  • Biomarkers
  • Cardiac and Clinical Outcomes
  • Demographics, Medical History/ Prior Health Status, Laboratory Tests/ Vital Signs

Data standards include CDEs as well as case report form (CRF) Modules and Guidelines. The CRF Modules logically organize the CDEs for data collection, while the Guidelines provide further information about the CDEs. The CDEs, CRF Modules, and Guidelines presented are organized into domains which are intuitive and common in clinical research studies.

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 Friedreich’s ataxia CDEs. The Friedreich’s ataxia CDE Committee is supported by the NINDS CDE Team.

Previously, the Friedreich’s ataxia CDE Committee was comprised of four different subgroups. Chairs were appointed to lead the overall Working Group and the individual subgroups. The Working Group members actively developed the CDEs for their specific subgroups and also had an opportunity to review and comment on the recommendations of the other subgroups.

The Working Group members served on either one or two subgroups. The subgroups began meeting by teleconference in August 2010 and continued to hold calls every four to six weeks through early 2011 to define the CDEs for their domains and to recommend standardized, validated instruments for Friedreich’s ataxia research. The Friedreich’s ataxia CDE Oversight Committee was created in 2013.

Complete Friedreich's ataxia CDE Roster

Oversight Committee Members

  • David R. Lynch, MD, PhD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    Co-Chair
  • Massimo Pandolfo, MD, FAAN
    Universit? Libre de Bruxelles, Brussels, Belgium
    Co-Chair
  • Khalaf Bushara, MD
    University of Minnesota, Minneapolis, Minnesota
  • Martin Delatycki, MD, PhD
    Murdoch Children's Research Institute, Victoria, Australia
  • Jennifer Farmer, MS
    Friedreich's Ataxia Research Alliance, Downington, Pennsylvania
  • David Jacoby, MD, PhD
    BioMarin Pharmaceutical Inc., Novato, California
  • R. Mark Payne, MD
    Indiana University School of Medicine, Indianapolis, Indiana
  • JÖrg B. Schulz, MD
    University Medical Center, RWTH Aachen, Aachen, Germany
  • Fernando Tricta, MD
    Apotex Research Inc., Toronto, Ontario, Canada

Working Group Co-Chairs

  • David R. Lynch, MD, PhD
    University of Pennsylvania, Philadelphia, Pennsylvania
  • Massimo Pandolfo, MD
    Universit? Libre de Bruxelles, Brussels, Belgium

Ataxia and Performance Measures

  • Khalaf Bushara, MD
    University of Minnesota, Minneapolis, Minnesota
  • Martin Delatycki, MD, PhD
    Murdoch Children's Research Institute, Victoria, Australia
  • David R. Lynch, MD, PhD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Susan Perlman, MD
    University of California Los Angeles, Los Angeles, California
  • JÖrg B. Schulz, MD
    University Medical Center, RWTH Aachen, Aachen, Germany

Biomarkers

  • Kurt Fischbeck, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Jane Larkindale, PhD
    Duchenne Regulatory Sciences Consortium at Critical Path Institute, Tucson, Arizona
  • Massimo Pandolfo, MD
    Universit? Libre de Bruxelles, Brussels, Belgium
  • R. Mark Payne, MD
    Indiana University, Indianapolis, Indiana (until 2018)

Cardiac and Clinical Outcomes

  • Jennifer Farmer, MS
    Friedreich's Ataxia Research Alliance, Downington, Pennsylvania
  • Paul Kantor, MD
    Hospital for Sick Children, Toronto, Ontario, Canada
  • Elizabeth McNally
    Center for Genetic Medicine, Northwestern University, Chicago, Illinois
  • R. Mark Payne, MD
    Indiana University, Indianapolis, Indiana (until 2018)
  • Roger Peverill, PhD
    Monash University, Clayton, Victoria, Australia
  • Subha Raman, MD
    The Ohio State University Medical Center, Columbus, Ohio (until 2018)
  • Robert Shaddy, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Imaging

  • Ian Harding, PhD
    Monash University, Clayton, Victoria, Australia
  • Pierre-Gilles Henry, PhD
    University of Minnesota, Minneapolis, Minnesota
  • Christophe Lenglet, PhD
    University of Minnesota, Minneapolis, Minnesota
  • Kathrin Reetz, MD
    RWTH Aachen University, Aachen, Germany

Demographics, Medical History/ Prior Health Status, Laboratory Tests/ Vital Signs

  • Jennifer Farmer, MS
    Friedreich's Ataxia Research Alliance, Downington, Pennsylvania
  • David R. Lynch, MD, PhD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • JÖrg B. Schulz, MD
    University Medical Center, RWTH Aachen, Aachen, Germany

NINDS CDE Team

  • Wendy Galpern, MD, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Amelie Gubitz, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Petra Kaufmann, MD, MSc
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Codrin Lungu, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • M. Carolina Mendoza-Puccini, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Claudia S. Moy, PhD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Joanne Odenkirchen, MPH
    NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland (through 2016)
  • Sherita Ala'i Hansen, MS
    The Emmes Corporation, Rockville, Maryland (until 2018)
  • Ilar Edun, BA
    The Emmes Corporation, Rockville, Maryland
  • Robin Feldman, BS, MBA
    The Emmes Corporation, Rockville, Maryland
  • Muniza Sheikh, MS, MBA
    The Emmes Corporation, Rockville, Maryland
  • Lisa Hunegs, MSW, MPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland (until 2013)
  • Kristy Miller, MPH
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland (until 2013)
  • Megan Schmidt
    KAI Research, Inc. (An Altarum Company), Rockville, Maryland (until 2013)

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.

Friedreich's ataxia CDE Revision History