Mechanisms of Mitochondrial Defects in Gulf War Syndrome

NCT01264471 | Completed DMC

• 2 other identifiers: H09378GW080138
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

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.

Conditions

Gulf War Syndrome; Mitochondrial Disease

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Characterize mitochondrial cellular energetics in Gulf War Syndrome patients

  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.

  approximately 2 years; once all data has been collected from study participants

Secondary Outcomes (1)

• Mitochondrial DNA

  approximately 2 years; once all data has been collected from study participants.

Study Arms (1)

Gulf War Syndrome patients

Gulf War veterans who have been diagnosed with Gulf War Syndrome.

Procedure: Skin biopsy; Procedure: Blood Collection

Interventions

Skin biopsy PROCEDURE

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)

Also known as: skin sample

Gulf War Syndrome patients

Blood Collection PROCEDURE

Approximately 45ml or 3 tablespoons for blood will be drawn from a vein in the patient's forearm.

Also known as: phlebotomy, blood draw

Gulf War Syndrome patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Gulf War Veterans who have been diagnosed with Gulf War Syndrome

You may qualify if:

• 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

You may not qualify if:

• 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)
• History of allergic reaction to lidocaine
• History of keloid formation with skin incisions.

Sponsors & Collaborators

• Medical Neurogenetics, LLC: lead
• United States Department of Defense: collaborator

Study Sites (1)

Medical Neurogenetics, LLC

Atlanta, Georgia, 30342, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood and tissue

MeSH Terms

Conditions

Persian Gulf Syndrome; Mitochondrial Diseases

Interventions

Blood Specimen Collection; Phlebotomy

Condition Hierarchy (Ancestors)

Occupational Diseases; War-Related Injuries; Wounds and Injuries; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Therapeutics

Study Officials

• John M Shoffner, MD

  Medical Neurogenetics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Director

Study Record Dates

• First Submitted: December 17, 2010
• First Posted: December 21, 2010
• Study Start: May 1, 2009
• Primary Completion: June 1, 2013
• Study Completion: June 1, 2013
• Last Updated: April 13, 2015

Record last verified: 2015-04

Locations

US (1)