NCT02858830

Familial Partial Lipodystrophy Study

Genetic and Metabolic Basis of Familial Partial Lipodystrophy

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 12 (actual)
• Sponsor: Mayo Clinic · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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 description

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.

Conditions

• Lipodystrophy, Familial Partial

Interventions

Type	Name	Description
OTHER	High fat mixed meal

Timeline

• Start date: 2016-08-01
• Primary completion: 2017-04-14
• Completion: 2017-04-14
• First posted: 2016-08-08
• Last updated: 2021-11-24

Locations

1 site across 1 country: United States