Familial Partial Lipodystrophy Study (FPL)
Primary Purpose
Lipodystrophy, Familial Partial
Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
High fat mixed meal
Sponsored by
About this trial
This is an interventional diagnostic trial for Lipodystrophy, Familial Partial focused on measuring FPL, adipose tissue, diabetes, dyslipidemia, metabolic, hyperinsulinemia
Eligibility Criteria
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%
Sites / Locations
- Mayo Clinic
Arms of the Study
Arm 1
Arm 2
Arm Type
Other
Other
Arm Label
Group 1: Healthy Subject
Group 2: FPL Subject
Arm Description
Healthy Subject (Control) will undergo assessments before and after ingesting a high fat mixed meal.
FPL Subject will undergo assessments before and after ingesting a high fat mixed meal.
Outcomes
Primary Outcome Measures
Upper body muscle strength measured by chest press dynamometry
Change in fractional mitochondrial protein synthesis rates
Lower body muscle strength measured by knee extension
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT02858830
Brief Title
Familial Partial Lipodystrophy Study
Acronym
FPL
Official Title
Genetic and Metabolic Basis of Familial Partial Lipodystrophy
Study Type
Interventional
2. Study Status
Record Verification Date
November 2021
Overall Recruitment Status
Completed
Study Start Date
August 2016 (undefined)
Primary Completion Date
April 14, 2017 (Actual)
Study Completion Date
April 14, 2017 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Mayo Clinic
4. Oversight
Data Monitoring Committee
No
5. Study Description
Brief 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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Lipodystrophy, Familial Partial
Keywords
FPL, adipose tissue, diabetes, dyslipidemia, metabolic, hyperinsulinemia
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
12 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Group 1: Healthy Subject
Arm Type
Other
Arm Description
Healthy Subject (Control) will undergo assessments before and after ingesting a high fat mixed meal.
Arm Title
Group 2: FPL Subject
Arm Type
Other
Arm Description
FPL Subject will undergo assessments before and after ingesting a high fat mixed meal.
Intervention Type
Other
Intervention Name(s)
High fat mixed meal
Primary Outcome Measure Information:
Title
Upper body muscle strength measured by chest press dynamometry
Time Frame
Before consumption of a high fat mixed meal
Title
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)
Title
Lower body muscle strength measured by knee extension
Time Frame
Before consumption of a high fat mixed meal
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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%
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Vinaya Simha, MBBS, MD
Organizational Affiliation
Mayo Clinic
Official's Role
Principal Investigator
Facility Information:
Facility Name
Mayo Clinic
City
Rochester
State/Province
Minnesota
ZIP/Postal Code
55905
Country
United States
12. IPD Sharing Statement
Plan to Share IPD
No
Links:
URL
https://www.mayo.edu/research/clinical-trials
Description
Mayo Clinic Clinical Trials
Learn more about this trial
Familial Partial Lipodystrophy Study
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