Mitochondrial Disease

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)

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

Mitochondrial Disease Highlight Summary: Overview of all Mitochondrial Disease-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
Audiology Outcomes Subgroup Summary N/A
Biomarkers Subgroup Summary N/A
Cognitive/Psychological Outcomes Subgroup Summary N/A
Endocrinology Subgroup Summary N/A
Exercise Physiology Subgroup Summary N/A
General Medical/Neurological Assessments Subgroup Summary N/A
Genetics Subgroup Summary N/A
GI/Hepatology and Nutrition Subgroup Summary N/A
Imaging Subgroup Summary N/A
Ophthalmology Outcomes Subgroup Summary N/A
Patient Reported Outcomes/Quality of Life/Fatigue Subgroup Summary N/A
Participant Characteristics
Demographics
CRF Module/Guidance CDEs
General Core CDE Details
Participant History and Family History
General Health History
CRF Module/Guidance CDEs
Bone Health History CDE Details
Diabetes-Related Medical History CDE Details
Dietary Supplements CDE Details
Family History CDE Details
Medical History CDE Details
Reproductive and Hormonal History CDE Details
Assessments and Examinations
Laboratory Tests and Biospecimens/Biomarkers
CRF Module/Guidance CDEs
Biomarkers Guidance Mitochondrial Disease N/A
Biomarkers in Mitochondrial Disease CDE Details
Diabetes Labs CDE Details
Labs of Bone Mineral Metabolism CDE Details
Primary Mitochondrial Disease (PMD) Genetics CDE Details
Imaging Diagnostics
CRF Module/Guidance CDEs
Brain Magnetic Resonance Imaging (MRI) CDE Details
Brain Perfusion Magnetic Resonance Imaging (MRI) CDE Details
DXA CDE Details
Echocardiogram CDE Details
Head Computed Tomography (CT) CDE Details
Imaging - Mitochondrial Disease CDE Details
Magnetic Resonance Spectroscopy (MRS) CDE Details
Phosphorus Magnetic Resonance Spectroscopy (31P-MRS) CDE Details
Spine Magnetic Resonance Imaging (MRI) CDE Details
Two Dimensional Speckle Tracking (Strain) Echocardiography Imaging CDE Details
Imaging Guidance and Definitions N/A
Cardiac Magnetic Resonance Imaging (MRI) CDE Details
Non-Imaging Diagnostics
CRF Module/Guidance CDEs
Electrocardiogram (ECG) CDE Details
Holter Examination CDE Details
Audiology
CRF Module/Guidance CDEs
Hearing Loss in Mitochondrial Disease CDE Details
Sensory Organization Test (SOT) N/A
Vestibular Function in Mitochondrial Disease CDE Details
Physical Examinations
CRF Module/Guidance CDEs
Mitochondrial and Gastrointestinal Diseases Assessment CDE Details
Physical Exam CDE Details
Automated Self-Administered 24-hour Dietary Recall (ASA 24) N/A
Vision
CRF Module/Guidance CDEs
Mitochondrial Disease Ophthalmology Test Guidance N/A
Exercise Physiology
CRF Module/Guidance CDEs
Staged Exercise Tolerance Test CDE Details
Vital Signs and Other Body Measures
CRF Module/Guidance CDEs
Vital Signs CDE Details
Outcomes and End Points
Motor Function
CRF Module/Guidance CDEs
12 Minute Walking Test N/A
2 Minute Walk Test N/A
6 Minute Walk Test N/A
Barry Albright Dystonia Scale (BADS) N/A
Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI) N/A
Borg Rating of Perceived Exertion (RPE) Scale N/A
Burke-Fahn-Marsden Movement Scale (BFMMS) N/A
Grooved Pegboard Test N/A
Gross Motor Function Measure (GMFM-88, GMFM-66) N/A
International Pediatric Mitochondrial Disease Score (IPMDS) N/A
Mitochondrial Myopathy Composite Assessment Tool (MM-COAST) N/A
Modified Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy (MHFMS-SMA/MHFMS-Extend) N/A
Motor Function Measure (MFM) N/A
Newcastle Mitochondrial Disease Adult Scale (NMDAS) N/A
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) N/A
Peabody Developmental Motor Scale Second Edition (PDMS-2) N/A
Physical and Neurological Examination for Subtle Signs (PANESS) N/A
Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) N/A
Purdue Pegboard N/A
Unified Dystonia Rating Scale (UDRS) N/A
Quality of Life/Patient Reported Outcomes
CRF Module/Guidance CDEs
12-Item Short Form Health Survey (SF-12) CDE Details
Child and Adolescent Scale of Environment (CASE) N/A
Child and Adolescent Scale of Participation (CASP) N/A
EuroQoL-5 Dimension Questionnaire (EQ-5D) CDE Details
Newcastle Mitochondrial Quality of Life Measure (NMQ) N/A
Pediatric Quality of Life Inventory (PEDSQL) N/A
Short Form 36-Item Health Survey (SF-36) N/A
Emotional/Behavioral
CRF Module/Guidance CDEs
ALS Depression Inventory (ADI-12) N/A
Apathy Evaluation Scale N/A
Apathy Scale (AS) N/A
Ask Suicide-Screening Questions (ASQ) Toolkit N/A
Autism Diagnostic Interview - Revised (ADI-R) N/A
Autism Diagnostic Observation Schedule, Second Edition (ADOS-II) N/A
Beck Anxiety Inventory (BAI) N/A
Beck Youth Inventories - 2nd Edition (BYI-II) N/A
Behavior Assessment System for Children, Third Edition (BASC-3) N/A
Brief Infant Toddler Social Emotional Assessment (BITSEA) N/A
Brief Psychiatric Rating Scale (BPRS) CDE Details
Cambridge Behavioral Inventory - Revised N/A
Center for Epidemiologic Studies-Depression Scale (CES-D) CDE Details
Child Behavior Checklist (CBCL) N/A
Children's Depression Inventory - 2 (CDI-2) N/A
Columbia - Suicide Severity Rating Scale (C-SSRS) N/A
Generalized Anxiety Disorder (GAD-7) N/A
Hamilton Anxiety Rating Scale (HAM-A) CDE Details
Hamilton Depression Rating Scale (HDRS) CDE Details
Hospital Anxiety and Depression Scale (HADS) N/A
Irritability Scale (IS) N/A
Modified Overt Aggression Scale (MOAS) N/A
Montgomery-Asberg Depression Scale (MADRS) N/A
Mood Disorder Questionnaire (MDQ) N/A
Problem Behaviours Assessment HD - Short Version (PBA-s) N/A
Academic Achievement
CRF Module/Guidance CDEs
American National Adult Reading Test (AmNART) N/A
Differential Ability Scales-II (DAS-II) N/A
Wechsler Individual Achievement Test-4 (WIAT-4) N/A
Cognitive
CRF Module/Guidance CDEs
Automated Neuropsychological Assessment Metrics (ANAM) N/A
Brief Test of Adult Cognition by Telephone (BTACT) CDE Details
Cambridge Cognitive Examination-Revised (CAMCOG-R) N/A
Mini-Mental State Examination (MMSE) N/A
NEPSY-II N/A
Repeatable Battery for Assessment of Neuropsychological Status (RBANS) CDE Details
Symbol Digit Modalities Test N/A
Neuropsychological Testing
CRF Module/Guidance CDEs
Bayley Scales of Infant Development (Bayley III, BSID) N/A
Executive Functioning
CRF Module/Guidance CDEs
Behavior Rating Inventory of Executive Function - Adult Version (BRIEF-A) CDE Details
Behavior Rating Inventory of Executive Function - Second Edition (BRIEF-2) N/A
Behavior Rating Inventory of Executive Function- Preschool Version (BRIEF-P) N/A
Delis-Kaplan Executive Function System (D-KEFS) N/A
Tower of London-Drexel University (TOLDX): 2nd Edition N/A
Trail Making Test N/A
Language
CRF Module/Guidance CDEs
Boston Diagnostic Aphasia Exam (BDAE-3) N/A
Boston Naming Test (BNT) - 30-item version N/A
Clinical Evaluation of Language Fundamentals - Fifth Edition (CELF-5) N/A
Comprehensive Assessment of Spoken Language, Second Edition (CASL-2) N/A
Controlled Oral Word Association Test (COWAT) subtest of the Multilingual Aphasia Examination (MAE) N/A
Expressive One-Word Picture Vocabulary Test N/A
New Reynell Developmental Language Scale (NRDLS) N/A
Peabody Picture Vocabulary Test 5th Edition (PPVT-5) N/A
Preschool Language Scales - Fifth Edition (PLS-5) N/A
Memory
CRF Module/Guidance CDEs
Brief Visuospatial Memory Test Revised (BVMT-R) N/A
Child and Adolescent Memory Profile (ChAMP) N/A
Rey Auditory Verbal Learning Test (RAVLT) N/A
Rey Complex Figure Test and Recognition Trial (RCFT) N/A
Wechsler Memory Scale IV (WMS-IV) N/A
Wide Range Assessment of Memory and Learning, Third Edition (WRAML-3) N/A
Attention
CRF Module/Guidance CDEs
Conners Continuous Performance Test 3rd Edition (Conners CPT 3) N/A
Test of Variables of Attention (TOVA) N/A
Sleep
CRF Module/Guidance CDEs
Epworth Sleepiness Scale (ESS) - Adult Version N/A
Digital Technology
CRF Module/Guidance CDEs
Exercise Wearables CDE Details
Fatigue
CRF Module/Guidance CDEs
Fatigue Severity Scale (FSS) N/A
Modified Fatigue Impact Scale (MFIS) CDE Details
Pediatric Quality of Life Inventory, Multidimensional Fatigue Scale N/A
Dementia
CRF Module/Guidance CDEs
Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) N/A
Montreal Cognitive Assessment (MoCA) N/A
Ataxia and Performance Measures
CRF Module/Guidance CDEs
International Cooperative Ataxia Rating Scale (ICARS) N/A
Scale for the Assessment and Rating of Ataxia (SARA) N/A
Visual-Spatial Processing
CRF Module/Guidance CDEs
Judgment of Line Orientation (Benton JLO) N/A
Test of Visual Perceptual Skills - 4th Edition (TVPS-4) N/A
Intellectual Functioning
CRF Module/Guidance CDEs
Kaufman Assessment Battery for Children N/A
Leiter International Performance Scale-3 (Leiter-3) N/A
Reynolds Intellectual Assessment Scale, Second Edition (RIAS-2) N/A
Wechsler Abbreviated Scale of Intelligence - Second Edition (WASI-II) CDE Details
Wechsler Adult Intelligence Scale - Fourth Edition (WAIS-IV) N/A
Wechsler Intelligence Scale for Children-V (WISC-V) N/A
Wechsler Preschool and Primary Scale of Intelligence (WPPSI-IV) N/A
Muscle Strength Testing
CRF Module/Guidance CDEs
Maximum Voluntary Isometric Contraction (MVIC) N/A
Pulmonary Function Testing/Respiratory Status
CRF Module/Guidance CDEs
Pulmonary Function CDE Details
Caregiver Reported Outcomes
CRF Module/Guidance CDEs
Zarit Burden Interview (ZBI) 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 National Institute of Neurological Disorders and Stroke (NINDS) convened the Mitochondrial Disease v1.0 Common Data Elements (CDE) Working Group (WG) in 2014. The Mitochondrial Disease v1.0 CDE WG was divided into 9 domain-specific subgroups. The first set of CDEs for Mitochondrial Disease was completed in 2015.

The Mitochondrial Disease CDE Oversight Committee (OC) was created in 2018 to periodically review, direct the updating, and advance the development of Mitochondrial Disease CDEs.

In 2022, the Mitochondrial Diseases v2.0 CDE WG was convened to perform a comprehensive review and update of the Mitochondrial Disease v1.0 CDEs.

The WG used a common definition of primary mitochondrial diseases to help focus this review and standardize the recommendations: Mitochondrial Disease Definition.

The WG was divided into 11 domain-specific subgroups: Audiology Outcomes, Biomarkers, Cognitive/Psychological Outcomes, Endocrinology, Exercise Physiology, GI/Hepatology and Nutrition, General Medical/Neurological Assessments, Genetics, Imaging, Ophthalmology Outcomes, and Patient Reported Outcomes (PRO)/Quality of Life (QoL)/Fatigue.

The Internal Review and Public Review period for the draft Mitochondrial Disease v2.0 CDEs was October 18, 2023 – November 15, 2023. The final Mitochondrial Disease v2.0 CDE recommendations were posted in March 2024.

Roster

Members of the Mitochondrial Disease v2.0 CDE Working Group by subgroup, current members of the Oversight Committee, the NIH Coordinating Team and the NINDS CDE Team are listed below. A roster spreadsheet can be downloaded from this link: Complete Version 2.0 Mitochondrial Disease CDE Working Group Roster

Complete Version 1.0 Mitochondrial Disease CDE Working Group Roster – Lists members of the Mitochondrial Disease v1.0 CDE Working Group by subgroup, previous members of the NIH Coordinating Team and the NINDS CDE Team.

Please see the Overview tab for additional project background and timeline information.

Oversight Committee Members

Oversight Committee Members

  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
    Co-Chair
  • Lynne A. Wolfe, MS, CRNP, BC
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
    Co-Chair
  • Marni Falk, MD
    The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Russel Saneto, DO, PhD
    Seattle Children's Hospital, Seattle, Washington
  • John Shoffner, MD
    Atlanta, Georgia
  • Johan Van Hove, MD, PhD, MBA
    University of Colorado, Aurora, Colorado
  • Jerry Vockley, MD, PhD
    University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
  • Philip Yeske, PhD
    United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

Previous Oversight Committee Members

Previous Oversight Committee Members

  • Danuta Krotoski, PhD
    National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland

Working Group Co-Chairs Version 2.0

Working Group Co-Chairs Version 2.0

  • Michio Hirano, MD
    Columbia University Medical Center, New York, New York
  • Lynne A. Wolfe, MS, CRNP, BC
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland

Audiology Outcomes Subgroup Version 2.0

Audiology Outcomes Subgroup Version 2.0

  • Carolyn Sue, MBBS, PhD
    Neuroscience Research Australia (NeuRA), Sydney, Australia
    Chair
  • Gregory Flamme, PhD
    Stephenson and Stephenson Research and Consulting (SASRAC), Forest Grove, Oregon
  • Margaret Kenna, MD, MPH
    Boston Children?s Hospital, Boston, Massachusetts
  • Sharon Kujawa, PhD, CCC-A
    Harvard Medical School, Mass Eye and Ear, Boston, Massachusetts
  • Tomoko Makishima, MD, PhD
    The University of Texas Medical Branch, Galveston, Texas
  • Gayla L. Poling, PhD
    National Institute on Deafness and Other Communication Disorders (NIDCD), Bethesda, Maryland
  • Kelly Reavis, PhD, MPH, CCC-A
    National Center for Rehabilitative Auditory Research, Veterans Affairs Portland Health Care System, Portland, Oregon
  • Lisa Schimmenti, MD
    Mayo Clinical, Rochester, Minnesota
  • Christopher Zalewski, PhD
    National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, Maryland

Biomarkers Subgroup Version 2.0

Biomarkers Subgroup Version 2.0

  • Kimberly Chapman, MD, PhD
    Children?s National Medical Center, Washington, District of Columbia
    Co-Chair
  • Fernando Scaglia, MD
    Baylor College of Medicine, Houston, Texas
    Co-Chair
  • Sarah Elsea, PhD
    Baylor College of Medicine, Houston, Texas
  • Devin Oglesbee, PhD
    Mayo Clinic, Rochester, Minnesota
  • Rohit Sharma, MD, PhD
    Massachusetts General Hospital, Boston, Massachusetts

Cognitive/Psychological Outcomes Subgroup Version 2.0

Cognitive/Psychological Outcomes Subgroup Version 2.0

  • Stephanie Assuras, PhD
    Columbia University Medical Center, New York, New York
    Chair
  • Lisa Emrick, MD
    Baylor College of Medicine, Houston, Texas
  • Emily Leaffer, PhD, MPH
    Blythedale Children?s Hospital, Valhalla, New York
  • Rebecca Vaurio, PhD
    Children?s of Minnesota, St. Paul, Minnesota

Endocrinology Subgroup Version 2.0

Endocrinology Subgroup Version 2.0

  • Shana McCormack, MD, MTR
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    Chair
  • Jose E. Abdenur, MD
    Children's Hospital of Orange County, Orange, California
  • Timothy Cheetham, MBChB, MD
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Jane Estrella, MD, FRACP, MMed
    PathWest, Perth, Australia
  • Bret Goodpaster, PhD
    Advent Health Research Institute, Orlando, Florida
  • Jaclyn Tamaroff, MD
    Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee
  • Fumihiko Urano, MD, PhD
    Washington University in St. Louis, St. Louis, Missouri
  • David Weber, MD
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Jarod Wong, MD
    University of Glasgow, Glasgow, United Kingdom

Exercise Physiology Subgroup Version 2.0

Exercise Physiology Subgroup Version 2.0

  • Tanja Taivassalo, PhD
    University of Florida, Gainesville, Florida
    Chair
  • Ronald Haller, MD
    University of Texas Southwestern Medical Center, Dallas, Texas
  • Russell Saneto, DO, PhD
    Seattle Children?s Hospital, Seattle, Washington
  • Mark Tarnopolsky, MD, PhD
    McMaster University, Exerkine Corporation, Hamilton, Ontario, Canada
  • Zarazuela Zolkipli-Cunningham, MBChB, MRCP
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania

General Medical/Neurological Assessments Subgroup Version 2.0

General Medical/Neurological Assessments Subgroup Version 2.0

  • Bruce H. Cohen, MD, FAAN
    Akron Children's Hospital, Akron, Ohio
    Chair
  • Richard Haas, MB, BChir
    University of California, San Diego, La Jolla, California
  • Margherita Milone, MD, PhD
    Mayo Clinic, Rochester, Minnesota
  • Ingrid Tein, MD, FRCPC
    University of Toronto, Toronto, Canada

Genetics Subgroup Version 2.0

Genetics Subgroup Version 2.0

  • William Copeland, PhD
    National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, North Carolina
    Chair
  • Valerio Carelli, MD, PhD
    University of Bologna School of Medicine, Bologna, Italy
  • Xiaowu Gai, PhD
    Keck School of Medicine of USC, Children's Hospital of Los Angeles, Los Angeles, California
  • Amel Karaa, MD
    Massachusetts General Hospital for Children, Boston, Massachusetts
  • Peter McGuire, MS, MBBCh
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
  • Colleen Clarke Muraresku, MS, LCGC
    Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

GI/Hepatology and Nutrition Subgroup Version 2.0

GI/Hepatology and Nutrition Subgroup Version 2.0

  • Lindsay Burrage, MD, PhD
    Baylor College of Medicine, Houston, Texas
  • Michael Camilleri, MD
    Mayo Clinic, Rochester, Minnesota
  • Maria Mascarenhas, MBBS
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Hayat Mousa, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Ronald Sokol, MD
    Children's Hospital Colorado, Aurora, Colorado
  • James Squires, MD, MS
    UPMC Children?s Hospital of Pittsburgh, Pittsburgh, Pennsylvania

Imaging Subgroup Version 2.0

Imaging Subgroup Version 2.0

  • Amy Goldstein, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Co-Chair
  • Andrea L. Gropman, MD
    Children's National Medical Center, Washington, District of Columbia
    Co-Chair
  • Cesar Alves, MD, PhD
    Boston Children's Hospital, Harvard University, Boston, Massachusetts
  • Raffaele Lodi, MD, PhD
    Bellaria Hospital, University of Bologna, Bologna, Italy
  • Arastoo Vossough, MD, PhD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Matthew Whitehead, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania

Ophthalmology Outcomes Subgroup Version 2.0

Ophthalmology Outcomes Subgroup Version 2.0

  • Wadih M. Zein, MD
    National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland
    Chair
  • Valerio Carelli, MD, PhD
    University of Bologna School of Medicine, Bologna, Italy
  • Kerry Goetz, MS
    National Eye Institute (NEI), National Institutes of Health, Bethesda, Maryland
  • Jimmy Le, ScD
    National Eye Institute (NEI), National Institutes of Health, Bethesda, Maryland
  • David A. Mackey, MBBS, MD
    Lions Eye Institute, Nedlands, Australia

Patient Reported Outcomes/Quality of Life/Fatigue Subgroup Version 2.0

Patient Reported Outcomes/Quality of Life/Fatigue Subgroup Version 2.0

  • Mary Kay Koenig, MD
    University of Texas Health Science Center, Houston, Texas
    Co-Chair
  • Sumit Parikh, MD
    Cleveland Clinic, Cleveland, Ohio
    Co-Chair
  • Cristy Balcells, RN, MSN
    UCB, Asheville, North Carolina
  • Amy Goldstein, MD
    Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • Grainne Gorman, MRCP, PhD
    Newcastle University, Newcastle upon Tyne, United Kingdom
  • Amel Karaa, MD
    Massachusetts General Hospital, Boston, Massachusetts
  • Cornelia Kornblum, MD
    University Hospital Bonn, Bonn, Germany
  • Michelangelo Mancuso, MD, PhD
    University of Pisa, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
  • Philip Yeske, PhD
    United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

NIH Coordinating Team

NIH Coordinating Team

  • Adam Hartman, MD, FAAP, FANA, FAES
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Peter McGuire, MS, MBBCh
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
  • Douglas Meinecke, PhD
    National Institute of Mental Health (NIMH), National Institutes of Health (NIH), Bethesda, Maryland
  • Lynne A. Wolfe, MS, CRNP, BC
    National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland

NINDS CDE Team

NINDS CDE Team

  • Adam Hartman, MD, FAAP, FANA, FAES
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • M. Carolina Mendoza-Puccini, MD
    NINDS CDE Program Director, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Alva Recinos, MD
    National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
  • Sherita Ala'i Hansen, MS (Until 2018)
    The Emmes Company, LLC, Rockville, Maryland
  • Clara Aman, MPH (Until 2023)
    The Emmes Company, LLC, Rockville, Maryland
  • Damon Collie, MSHS
    The Emmes Company, LLC, Rockville, Maryland
  • Becky Dowd, MSCLS
    The Emmes Company, LLC, Rockville, Maryland
  • Ilar Edun, BA (Until 2020)
    The Emmes Company, LLC, Rockville, Maryland
  • Joy Esterlitz, MS (Until 2020)
    The Emmes Company, LLC, Rockville, Maryland
  • Robin Feldman, BS, MBA
    The Emmes Company, LLC, Rockville, Maryland
  • Andy Franklin, BA
    The Emmes Company, LLC, Rockville, Maryland
  • Ayanna Garland (Until 2014)
    The Emmes Company, LLC, Rockville, Maryland
  • Katelyn Gay, BS
    The Emmes Company, LLC, Rockville, Maryland
  • Marybeth Montoro, MPH, CPH (Until 2015)
    The Emmes Company, LLC, Rockville, Maryland
  • Divya Nigam, BS (Until 2018)
    The Emmes Company, LLC, Rockville, Maryland
  • Shola Ogbodo, BS (Until 2024)
    The Emmes Company, LLC, Rockville, Maryland
  • Muniza Sheikh, MS, MBA
    The Emmes Company, LLC, Rockville, Maryland
  • Ian Spector, BS, MPS (Until 2024)
    The Emmes Company, LLC, Rockville, Maryland
  • Amanda Suller, BS (Until 2015)
    The Emmes Company, LLC, Rockville, Maryland

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.

Mitochondrial CDE Revision History Document