Clinical Trial: Familial Partial Lipodystrophy Study
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: Genetic and Metabolic Basis of Familial Partial Lipodystrophy
Brief Summary: Studying patients with rare adipose tissue disorders may help the investigators to better understand the pathophysiology of diabetes and dyslipidemia in relation to adiposity, and thus have an enormous impact on public health.
Detailed Summary:
A systematic study of body fat distribution is necessary to better define the phenotypic spectrum of FPL, and to better recognize FPL in patients with Metabolic Syndrome. Similarly, genetic studies in these patients will not only help better characterize the genotype-phenotype relationship, but is also likely to help identify other genes involved in regulation of lipid homeostasis, as some patients may not have any of the known mutations.
The Investigators will systematically study mitochondrial protein quality and function under fasting and fed state in relation to intramyocellular and circulating plasma lipid levels, and compare with age, sex and BMI-matched individuals. The Investigators will also study the rate of de-novo protein synthesis to determine if hyperinsulinemia affects both muscle protein anabolism and catabolism.
Sponsor: Mayo Clinic
Current Primary Outcome:
- Upper body muscle strength measured by chest press dynamometry [ Time Frame: Before consumption of a high fat mixed meal ]
- Change in fractional mitochondrial protein synthesis rates [ Time Frame: Before and after consumption of a high fat mixed meal (approximately 4 hours after the meal) ]
- Lower body muscle strength measured by knee extension [ Time Frame: Before consumption of a high fat mixed meal ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Mayo Clinic
Dates:
Date Received: May 19, 2016
Date Started: August 2016
Date Completion: December 2018
Last Updated: May 3, 2017
Last Verified: May 2017
