Enrolling in Studies

The Lipodystrophy research team, led by Abhimanyu Garg, M.D., is recruiting volunteers to participate in further studies pertaining to lipodystrophy. If you have been diagnosed with lipodystrophy or believe that you may have lipodystrophy, you and your family can be an important part of this research. Affected and unaffected family members are necessary to identify the genetic basis and cellular mechanisms responsible for different varieties of lipodystrophies.

Patients with HIV infection are needed to participate in several new trials. Some of these trials are directed toward understanding the mechanisms of fat loss, which occurs in HIV-infected patients upon receiving protease inhibitor therapy. Other trials are directed towards finding newer therapies for patients who have already developed lipodystrophy.

If after reading the descriptions below, you are interested in participating in a research study, please email Claudia Quittner.

More study information, including detailed informed consent information, is also available at Research Study Forms.


Physical and Metabolic Abnormalities in Lipodystrophy

The purpose of this ongoing study is to identify defective genes responsible for the body fat loss and metabolic abnormalities in various types of genetic lipodystrophies. We are also trying to identify underlying mechanisms (autoimmune and others) for fat loss in patients with the acquired lipodystrophies. You are invited to participate in this research because you or your family members have selective loss of body fat (generalized, partial ,or localized) called lipodystrophy.

In order to participate in this study you will undergo some screening tests. You will be asked questions about your health and health history. You will have blood tests for cholesterol, triglyceride, lipid, and hormone analysis. Oral glucose tolerance test (OGTT) will be done in order to measure your blood sugar level. You will also have to undergo anthropometeric measurements which include height, weight, and percent of body fat measurements.

Novel Therapies for Metabolic Complications of Lipodystrophies

The management of diabetes, insulin resistance, hypertriglyceridemia, and fatty liver, which are frequently seen in patients with lipodystrophies, present a therapeutic challenge. The purpose of this study is to determine the efficacy and safety of three therapeutic interventions on above mentioned problems in lipodystrophic patients.

The interventions are:

  • Extremely low-fat diet in patients with generalized lipodystrophy
  • Leptin replacement therapy in patients with familial partial lipodystrophy of Duningan variety
  • Pioglitazone treatment for familial lipodystrophy.

These interventions are designed to improve or resolve the fatty liver, hypertriglyceridemia, and insulin resistance or diabetes seen in these patients.

Cholic Acid for Hepatic Steatosis in Lipodystrophy

Nonalcoholic hepatic steatosis or steatohepatitis caused by excessive accumulation of triglycerides in hepatocytes, in fact, is a common feature in patients with lipodystrophies. Often a cause for significant morbidity and even mortality in lipodystrophic patients, hepatic steatosis poses a significant therapeutic challenge. Recent insight into the role of primary bile acids, cholic acid, and chenodeoxycholic acid, which are endogenous ligands for the farnesoid X receptor (FXR), in regulating hepatic triglyceride homeostasis offers new treatment options for hepatic steatosis.

Cholic acid has been previously used to treat inborn errors of bile acid synthesis in children without any side effects. In other studies in adults, cholic acid has been reported to be well tolerated. Therefore, we propose to investigate a potentially safe therapeutic option for its efficacy in reducing hepatic steatosis in patients with lipodystrophies.

Trials of Leptin Replacement Therapy in Patients with Lipodystrophy

The purpose of this study is to investigate the effect of leptin (a natural hormone produced by fat cells) on glucose, fat, and protein metabolism and hormonal abnormalities in patients with lipodystrophy and low levels of leptin. Studies have shown that low levels of leptin in patients contribute to the metabolic abnormalities associated with lipodystrophy.

The mechanisms by which leptin improves glucose and lipid control is not understood very well. We have recently demonstrated the efficacy of leptin therapy in improving glucose and lipid control in patients with mostly generalized lipodystrophy. Therefore, in this study we will examine the possible mechanisms of leptin action by studying the effects of leptin administration on food intake, insulin resistance, insulin secretory response, hepatic and intramuscular triglyceride stores in a large sample of patients with different lipodystrophy.

Therapeutic Approaches to Highly Active Anti-Retroviral Therapy (HAART)-Induced Lipodystrophy

Highly Active Anti- Retroviral Therapies (HAART) that includes HIV-1 protease inhibitors has greatly reduced HIV-related mortalities. However, many patients on protease inhibitor therapy develop lipodystrophy, characterized by redistribution of body fat and insulin resistance. Low leptin levels have also been reported in some of these patients with selective loss of subcutaneous fat. We have recently demonstrated the efficacy of leptin replacement therapy in non-HIV infected patients therefore; we would be testing its efficacy in the treatment of HAART associated lipodystrophy.

The purpose of this study is to determine the efficacy and safety of 4 therapeutic interventions on HAART-Induces Lipodystrophy. The interventions are:

  • Dietary – the effect of a high carbohydrate vs. a high cis-monounsaturated fatty acid diet
  • The effect of aerobic exercise with dietary advice
  • The effect of Omega-3 fatty acids from fish oil
  • The effect of leptin therapy

These interventions are aimed at improving the metabolic complications of HAART therapy such as elevated lipids, and insulin resistance or diabetes.