Familial Partial Lipodystrophy Study (FPL)

November 23, 2021 updated by: Vinaya Simha, M.B.B.S., M.D., Mayo Clinic

Genetic and Metabolic Basis of Familial Partial Lipodystrophy

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

12

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Upper body muscle strength measured by chest press dynamometry
Time Frame: Before consumption of a high fat mixed meal
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)
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
Before consumption of a high fat mixed meal

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Investigators

  • Principal Investigator: Vinaya Simha, MBBS, MD, Mayo Clinic

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

August 1, 2016

Primary Completion (Actual)

April 14, 2017

Study Completion (Actual)

April 14, 2017

Study Registration Dates

First Submitted

May 19, 2016

First Submitted That Met QC Criteria

August 5, 2016

First Posted (Estimate)

August 8, 2016

Study Record Updates

Last Update Posted (Actual)

November 24, 2021

Last Update Submitted That Met QC Criteria

November 23, 2021

Last Verified

November 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 15-009144

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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