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Familial Partial Lipodystrophy Study (FPL)

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Mayo Clinic

Status

Completed

Conditions

Lipodystrophy, Familial Partial

Treatments

Other: High fat mixed meal

Study type

Interventional

Funder types

Other

Identifiers

NCT02858830
15-009144

Details and patient eligibility

About

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 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.

Enrollment

12 patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

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%

Trial design

Primary purpose

Diagnostic

Allocation

Non-Randomized

Interventional model

Parallel Assignment

Masking

None (Open label)

12 participants in 2 patient groups

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

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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