Mechanisms of Mitochondrial Defects in Gulf War Syndrome

This study has been completed.

Sponsor:

ClinicalTrials.gov Identifier:

NCT01264471

First Posted: December 21, 2010

Last Update Posted: April 13, 2015

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Collaborator:

United States Department of Defense

Information provided by (Responsible Party):

John M. Shoffner, Medical Neurogenetics, LLC

Purpose

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:

Genetics Home Reference related topics: ataxia neuropathy spectrum childhood myocerebrohepatopathy spectrum deoxyguanosine kinase deficiency mitochondrial neurogastrointestinal encephalopathy disease myoclonic epilepsy myopathy sensory ataxia

U.S. FDA Resources

Further study details as provided by John M. Shoffner, 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

Eligibility

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01264471

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


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 Submitted:	December 17, 2010
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

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