Familial Partial Lipodystrophy Study

Lipodystrophy, Familial Partial Clinical Trial

— FPL  

Official title:

Genetic and Metabolic Basis of Familial Partial Lipodystrophy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02858830
• Other study ID #: 15-009144
• Status: Completed
• Phase: N/A
• Start date: August 2016
• Est. completion date: April 14, 2017

Study information

• Verified date: November 2021
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: April 14, 2017
• Est. primary completion date: April 14, 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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%

Related Conditions & MeSH terms

• Lipodystrophy
• Lipodystrophy, Familial Partial

Intervention

Other:
• High fat mixed meal

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Upper body muscle strength measured by chest press dynamometry		Before consumption of a high fat mixed meal
Primary	Change in fractional mitochondrial protein synthesis rates		Before and after consumption of a high fat mixed meal (approximately 4 hours after the meal)
Primary	Lower body muscle strength measured by knee extension		Before consumption of a high fat mixed meal

External Links

•   Mayo Clinic Clinical Trials