Familial Partial Lipodystrophy Study

Not Applicable

Completed

• Conditions: Lipodystrophy, Familial Partial

• Registration Number: NCT02858830
• Lead Sponsor: Mayo Clinic

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 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 Timeline

• Study First Submitted: 2016-05-19
• Study Start: 2016-08
• Study First Submitted QC: 2016-08-05
• Study First Posted: 2016-08-08
• Primary Completion: 2017-04-14
• Study Completion: 2017-04-14
• Status Verified: 2021-11
• Last Update Submitted: 2021-11-23
• Last Update Posted: 2021-11-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

1. Clinical diagnosis of lipodystrophy (decreased subcutaneous fat)
2. Family history of lipodystrophy
3. Normal control subject

Exclusion Criteria

1. Inability to provide informed consent
2. Hemoglobin < 10g%

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States