FPL: Familial Partial Lipodystrophy Study

Sponsor

Mayo Clinic (Other)

Overall Status

Completed

CT.gov ID

NCT02858830

Collaborator

(none)

Enrollment

Location

Arms

8.4

Duration (Months)

1.4

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Lipodystrophy, Familial Partial	Other: High fat mixed meal	N/A

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.

Study Design

Study Type:

Interventional

Actual Enrollment :

12 participants

Allocation:

Non-Randomized

Intervention Model:

Parallel Assignment

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

Genetic and Metabolic Basis of Familial Partial Lipodystrophy

Study Start Date :

Aug 1, 2016

Actual Primary Completion Date :

Apr 14, 2017

Actual Study Completion Date :

Apr 14, 2017

Arms and Interventions

Arm	Intervention/Treatment
Other: Group 1: Healthy Subject Healthy Subject (Control) will undergo assessments before and after ingesting a high fat mixed meal.	Other: High fat mixed meal
Other: Group 2: FPL Subject FPL Subject will undergo assessments before and after ingesting a high fat mixed meal.	Other: High fat mixed meal

Arm

Intervention/Treatment

Other: Group 1: Healthy Subject

Healthy Subject (Control) will undergo assessments before and after ingesting a high fat mixed meal.

Other: High fat mixed meal

Other: Group 2: FPL Subject

FPL Subject will undergo assessments before and after ingesting a high fat mixed meal.

Other: High fat mixed meal

Outcome Measures

Primary Outcome Measures

Upper body muscle strength measured by chest press dynamometry [Before consumption of a high fat mixed meal]
Change in fractional mitochondrial protein synthesis rates [Before and after consumption of a high fat mixed meal (approximately 4 hours after the meal)]
Lower body muscle strength measured by knee extension [Before consumption of a high fat mixed meal]