Mechanisms of Mitochondrial Defects in Gulf War Syndrome

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

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 or disease	Intervention/treatment
Gulf War Syndrome; Mitochondrial Disease	Procedure: Skin biopsy; Procedure: Blood Collection

Study Design

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Study Type :	Observational
Actual Enrollment :	26 participants
Observational Model:	Case-Only
Time Perspective:	Cross-Sectional
Official Title:	Mechanisms of Mitochondrial Defects in Gulf War Syndrome
Study Start Date :	May 2009
Actual Primary Completion Date :	June 2013
Actual Study Completion Date :	June 2013

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort	Intervention/treatment
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

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. 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 :

1. 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

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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

Criteria

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.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

United States, Georgia
Medical Neurogenetics, LLC
Atlanta, Georgia, United States, 30342

Sponsors and Collaborators

Medical Neurogenetics, LLC

United States Department of Defense

Investigators

Principal Investigator:	John M Shoffner, MD	Medical Neurogenetics

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	John M. Shoffner, Medical Director, Medical Neurogenetics, LLC
ClinicalTrials.gov Identifier:	NCT01264471 History of Changes
Other Study ID Numbers:	H09378; GW080138 ( Other Grant/Funding Number: Department of Defense CDMRP )
First Posted:	December 21, 2010
Last Update Posted:	April 13, 2015
Last Verified:	April 2015

Keywords provided by John M. Shoffner, Medical Neurogenetics, LLC:

Gulf War Syndrome; Gulf War Illness; Mitochondrial defects; Mitochondrial disorders; Persian Gulf Syndrome

Additional relevant MeSH terms:

Syndrome; Mitochondrial Diseases; Persian Gulf Syndrome; Disease	Pathologic Processes; Metabolic Diseases; Occupational Diseases