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Completed

NCT Number: NCT02858830

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.

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Key information

Conditions

Lipodystrophy, Familial Partial Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diabetes Mellitus Dyslipidemias Endocrine System Diseases Genetic Diseases, Inborn Glucose Metabolism Disorders Hyperinsulinism Laminopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipodystrophy Metabolic Diseases Nutritional and Metabolic Diseases Skin Diseases Skin Diseases, Metabolic Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Clinical diagnosis of lipodystrophy (decreased subcutaneous fat)
  • Family history of lipodystrophy
  • Normal control subject

Exclusion criteria

  • Inability to provide informed consent
  • Hemoglobin < 10g%

Treatment and study plan

High Fat Mixed Meal

Other

Primary outcomes

  1. Upper body muscle strength measured by chest press dynamometry

    Time frame: Before consumption of a high fat mixed meal

  2. 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)

  3. Lower body muscle strength measured by knee extension

    Time frame: Before consumption of a high fat mixed meal

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

Genetic and Metabolic Basis of Familial Partial Lipodystrophy

Acronym: FPL

Important dates

Study start
2016
Primary completion
2017
Study completion
2017
First posted
Aug 8, 2016
Registry last updated
Nov 24, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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