Familial Partial Lipodystrophy Study

Study Overview
=================
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.

Official Title
-----------------
Genetic and Metabolic Basis of Familial Partial Lipodystrophy

Conditions
-----------------
Lipodystrophy, Familial Partial

Intervention / Treatment
-----------------
* Other: High fat mixed meal


Participation Criteria
=================
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%

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Design Details

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


Arms and Interventions

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

What is the study measuring?
-----------------
Primary Outcome Measures

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

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
FPL, adipose tissue, diabetes, dyslipidemia, metabolic, hyperinsulinemia