Familial Partial Lipodystrophy Study


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.

Full Title of Study: “Genetic and Metabolic Basis of Familial Partial Lipodystrophy”

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Diagnostic
    • Masking: None (Open Label)
  • Study Primary Completion Date: February 2018

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.


  • Other: High fat mixed meal

Arms, Groups and Cohorts

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

Clinical Trial Outcome Measures

Primary Measures

  • 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

Participating in This Clinical Trial

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%

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Mayo Clinic
  • Provider of Information About this Clinical Study
    • Principal Investigator: Vinaya Simha, M.B.B.S., M.D., PI – Mayo Clinic
  • Overall Official(s)
    • Vinaya Simha, MBBS, MD, Principal Investigator, Mayo Clinic

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