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Mechanisms of Mitochondrial Defects in Gulf War Syndrome

This study has been completed.
United States Department of Defense
Information provided by (Responsible Party):
John M. Shoffner, Medical Neurogenetics, LLC Identifier:
First received: December 17, 2010
Last updated: April 10, 2015
Last verified: April 2015
The purpose of the study is to investigate possible causes for Gulf War Syndrome. Gulf War Syndrome is associated with increased incidences of amyotrophic lateral sclerosis (Lou Gehrig's Disease), pain syndromes, muscle complaints that include fatigue and myalgias (muscle pain), as well as other neurological symptoms. Abnormalities in the part of the cell known as mitochondria have been delineated in Gulf War Syndrome. Mitochondria are the "power plants" of the body. Mitochondria take the food you eat and break the food down into a form of energy that the body can use. The investigators propose that Gulf War Syndrome is determined by a complex interaction of factors that interfere with mitochondrial function. This study will be the first investigation of mitochondrial function in Gulf War Syndrome. The investigators objective is to establish the cause for symptoms in affected veterans, develop testing that can more easily identify Gulf War Syndrome, and ultimately develop treatment protocols for Gulf War Syndrome.

Condition Intervention
Gulf War Syndrome
Mitochondrial Disease
Procedure: Skin biopsy
Procedure: Blood Collection

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Mechanisms of Mitochondrial Defects in Gulf War Syndrome

Resource links provided by NLM:

Further study details as provided by Medical Neurogenetics, LLC:

Primary Outcome Measures:
  • Characterize mitochondrial cellular energetics in Gulf War Syndrome patients [ Time Frame: approximately 2 years; once all data has been collected from study participants ]
    After collecting a skin and blood sample, mitochondrial cellular energetics in Gulf War Syndrome patients will be characterized by: 1. high resolution respirometry of intact cells, 2. quantitative analysis of individual mitochondrial proteins, 3. analysis of intact OXPHOS enzyme complexes and supercomplexes, 4. in gel enzyme activity assessment of intact OXPHOS enzyme complexes and supercomplexes, 5. mitochondrial DNA (mtDNA) copy number quantitation to assess for defects in regulation mtDNA replication and 6. cellular coenzyme Q10 quantitation.

Secondary Outcome Measures:
  • Mitochondrial DNA [ Time Frame: approximately 2 years; once all data has been collected from study participants. ]
    Assess the mitochondrial DNA (mtDNA) from each patient with Gulf War Syndrome for mtDNA mutations by whole genome sequencing of leukocyte and skin cell mtDNA.

Biospecimen Retention:   Samples With DNA
whole blood and tissue

Enrollment: 26
Study Start Date: May 2009
Study Completion Date: June 2013
Primary Completion Date: June 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Gulf War Syndrome patients
Gulf War veterans who have been diagnosed with Gulf War Syndrome.
Procedure: Skin biopsy
A small skin sample will be obtained from the patients arm which is approximately the size of the top of a thumbtack (a small circle no more than a 1/4 inch across)
Other Name: skin sample
Procedure: Blood Collection
Approximately 45ml or 3 tablespoons for blood will be drawn from a vein in the patient's forearm.
Other Names:
  • phlebotomy
  • blood draw


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Gulf War Veterans who have been diagnosed with Gulf War Syndrome

Inclusion Criteria:

  • Short-term memory loss or a severe inability to concentrate that affects work, school or other normal activities
  • Muscle Pain, myalgias
  • Pain without redness or swelling in a number of joints
  • Intense or changing patterns of headaches
  • Unrefreshing sleep
  • After any exertion, weariness that lasts for more than a day

Exclusion Criteria:

  • Organ failure (e.g. emphysema, cirrhosis, cardiac failure, chronic renal failure)
  • Chronic infections (e.g. HIV/AIDS, hepatitis B or C)
  • Rheumatic and chronic inflammatory diseases (e.g. systemic lupus erythematosis, Sjogren's syndrome, rheumatoid arthritis, inflammatory bowel disease, chronic pancreatitis.)
  • Major neurologic diseases (e.g. multiple sclerosis, neuromuscular diseases, epilepsy or other disease requiring ongoing medication that could cause fatigue, stroke, head injury with residual neurologic deficits)
  • Diseases requiring systemic treatment (e.g. organ or bone marrow transplantation; systemic chemotherapy; radiation of brain, thorax, abdomen, or pelvis)
  • Major endocrine diseases (e.g. hypopituitarism, adrenal insufficiency)
  • Myocardial infarction, heart failure
  • Morbid obesity (body mass index >40)
  • Permanent psychiatric exclusions: Lifetime diagnoses of bipolar affective disorders, schizophrenia or any subtype, delusional disorders of any subtype, dementias of any subtype, organic brain disorders, and alcohol or substance abuse within 2 years before onset of the fatiguing illness.
  • History of allergic reaction to lidocaine
  • History of keloid formation with skin incisions.
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Please refer to this study by its identifier: NCT01264471

United States, Georgia
Medical Neurogenetics, LLC
Atlanta, Georgia, United States, 30342
Sponsors and Collaborators
Medical Neurogenetics, LLC
United States Department of Defense
Principal Investigator: John M Shoffner, MD Medical Neurogenetics
  More Information

Responsible Party: John M. Shoffner, Medical Director, Medical Neurogenetics, LLC Identifier: NCT01264471     History of Changes
Other Study ID Numbers: H09378
GW080138 ( Other Grant/Funding Number: Department of Defense CDMRP )
Study First Received: December 17, 2010
Last Updated: April 10, 2015

Keywords provided by Medical Neurogenetics, LLC:
Gulf War Syndrome
Gulf War Illness
Mitochondrial defects
Mitochondrial disorders
Persian Gulf Syndrome

Additional relevant MeSH terms:
Mitochondrial Diseases
Persian Gulf Syndrome
Pathologic Processes
Metabolic Diseases
Occupational Diseases processed this record on April 25, 2017