Familial Partial Lipodystrophy Study
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Endocrine |
| Therapuetic Areas: | Endocrinology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 2/9/2019 |
| Start Date: | August 2016 |
| End Date: | December 2019 |
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.
understand the pathophysiology of diabetes and dyslipidemia in relation to adiposity, and
thus have an enormous impact on public health.
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.
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.
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%
We found this trial at
1
site
Rochester, Minnesota 55905
Principal Investigator: Vinya Simha, MBBS, MD
Phone: 507-266-1944
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