Fatty Acid Oxidation Disorders & Body Weight Regulation Grant

NCT00654004 | Completed Results

• 2 other identifiers: DK71869K01DK071869
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief Summary

Several hormones involved in body weight regulation increase the subject's ability to burn fat for energy. The purpose of this study is to investigate how burning fat for energy may affect those hormones and body weight in children. The study will also determine if eating a diet higher in protein alters the amount of fat you burn and how these hormones control body weight.

Conditions

Trifunctional Protein Deficiency

Keywords

trifunctional; protein; deficiency; TFP; weight; regulation

Outcome Measures

Primary Outcomes (2)

• An Outcome of This Study is the Difference in Percent Body Fat (%BF) Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Normal Controls.

  Body composition by DEXA was measured in subjects with a long-chain fatty acid oxidation disorder (n=13). Twelve age, sex and BMI matched controls and 4 heterozygotes for a long-chain fatty acid oxidation disorder were recruited who also completed body composition measures. The difference in body composition between subjects and age matched controls was compared by t-test.

  Subjects will be compared to controls at one point in time.

• An Outcome of This Study is the Difference in Glucose Tolerance Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Normal Controls.

  Glucose tolerance was estimated by the Matsuda Index using glucose and insulin values from a standard oral glucose tolerance test. The Matsuda Index is calculated by the following formula: 10,000/ sq root of (fasting glucose mg/dl X fasting insulin in units/ml) X (mean glucose (mg/dl) X mean insulin (units/ml) and correlates with insulin sensitivity measured by the gold standard method of a hyperinsulinemic euglycemic clamp. Values of 2.5 or greater are considered insulin sensitive. Values of 2.4 or less are considered insulin resistance. The Matsuda Index of Insulin Sensitivity was measured in subjects with a long-chain fatty acid oxidation disorder (n=12). Twelve age, sex and BMI matched controls and 4 heterozygotes for a long-chain fatty acid oxidation disorder were recruited who also completed an oral glucose tolerance test. The difference in Mastuda Index between subjects and age matched controls was compared by t-test.

  Subjects will be compared to controls at one point in time.

Secondary Outcomes (3)

• The Difference in Plasma Adiponectin Levels Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Matched Controls Was Compared by T-test

  Fasting total adiponectin (ug/ml)

• The Difference in Plasma Leptin Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Matched Controls Was Compared by T-test

  Fasting leptin levels ng per kg of fat mass

• The Difference in Plasma Insulin Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Matched Controls Was Compared by T-test

  Fasting insulin levels uUnits/ml

Study Arms (2)

Subjects

Subjects are patients with a long-chain fatty acid oxidation disorder including CPT2, VLCAD, TFP or LCHAD deficiency.

Controls

Subjects do not have a fatty acid oxidation disorder.

Eligibility Criteria

• Age: 7 Years - 40 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Subjects were patients with a diagnosis of mitochondrial trifunctional protein, long-chain 3-hydroxyacylCoA dehydrogenase, very long-chain acylCoA dehydrogenase or carnitine palmitoyltransferase 2 deficency. They were recruited through advertisements on the FAO support website, or physician referral. Control subjects were from the greater Portland area. They were recruited via adverstisements at OHSU.

You may qualify if:

• confirmed diagnosis of TFP, LCHAD, CPT2 or VLCAD deficiency
• at least 7 years of age
• willingness to complete overnight admission
• generally healthy

You may not qualify if:

• diabetes, thyroid disease or other endocrine dysfunction that alters body composition.
• pregnancy
• anemia

Sponsors & Collaborators

• Oregon Health and Science University: lead
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator
• Oregon State University: collaborator

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

Related Publications (1)

• Behrend AM, Harding CO, Shoemaker JD, Matern D, Sahn DJ, Elliot DL, Gillingham MB. Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol Genet Metab. 2012 Jan;105(1):110-5. doi: 10.1016/j.ymgme.2011.09.030. Epub 2011 Oct 1.

  PMID: 22030098 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood and urine samples. Body composition and energy expenditure data. MRI/MRS images.

MeSH Terms

Conditions

Trifunctional Protein Deficiency With Myopathy And Neuropathy; Body Weight

Condition Hierarchy (Ancestors)

Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Limitations and Caveats

Trial included small number of subjects with a rare disorder of long-chain fatty acid oxidation. Subjects were predominately children and adolescents. There were some technical difficulties with recruitment and collection of all the outcomes.

Results Point of Contact

• Title: Dr. Melanie Gillingham
• Organization: Oregon Health & Science Univeristy

gillingm@ohsu.edu

503-494-1682

Study Officials

• Melanie B. Gillingham, PhD

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: April 3, 2008
• First Posted: April 7, 2008
• Study Start: April 1, 2006
• Primary Completion: September 1, 2010
• Study Completion: January 1, 2011
• Last Updated: April 22, 2013
• Results First Posted: April 22, 2013

Record last verified: 2013-04

Locations

US (1)