View clinical trials related to Lipodystrophy.
Filter by:The study is a post-authorization, prospective, voluntary registry of patients treated with commercial metreleptin including, but not limited to, patients in the US and EEA.
Background: - Generalized lipodystrophy can cause high blood fat levels and resistance to insulin. This can lead to health problems including diabetes. Researchers have found that the drug metreleptin improves health in people with this disease. Objective: - To test the safety and effectiveness of metreleptin. Eligibility: - People ages 6 months and older with generalized lipodystrophy who: - have received metreleptin through NIH studies AND - cannot get it through approved or compassionate use mechanisms in their home country. Design: - Participants will come to NIH approximately every 6 months during year one, then every 1 2 years. Financial assistance may be available for travel within the U.S. - At visits, participants will get a supply of metreleptin to take home for daily injections. They will have: - plastic catheter placed in an arm vein. - blood tests, urine collection, and physical exam. - oral glucose tolerance test, drinking a sweet liquid. - ultrasound of the heart, liver, uterus, and ovaries. A gel and a probe are placed on the skin and pictures are taken of the organs. - echocardiogram, which takes pictures of the heart with sound waves. - Resting Metabolic Rate taken. A plastic hood is worn over the head while the oxygen they breathe is measured. - Participants will have up to 3 DEXA scan x-rays per year. - Participants may have: - annual bone x-rays. - liver biopsies every few years. A needle will be inserted into the liver to obtain a small piece. Participants will sign a separate consent for this. - Participants must be seen regularly by their local doctors and have blood tests at least every 3 6 months at home.
Background: - Partial lipodystrophy can cause high blood fat levels and resistance to insulin. This can lead to health problems including diabetes. Researchers have found that the drug metreleptin improves health in people with this disease. Objective: - To test the safety and effectiveness of metreleptin. Eligibility: - People age 6 months and older with partial lipodystrophy who - have received metreleptin through NIH studies and shown improvement AND - cannot get metreleptin other ways. Design: - Participants will come to NIH approximately every 6 months during year one, then every 1 2 years. Financial assistance may be available for travel within the U.S. - At visits, participants will get a supply of metreleptin to take home for daily injections, or it can be shipped to them inside the U.S. They will have: - plastic catheter placed in an arm vein. - blood tests, urine collection, and physical exam. - oral glucose tolerance test, drinking a sweet liquid. - ultrasound of the heart, liver, uterus, and ovaries. A gel and a probe are placed on the skin and pictures are taken of the organs. - echocardiogram, which takes pictures of the heart with sound waves. - Resting Metabolic Rate taken. A plastic hood is worn over the head while the oxygen they breathe is measured. - Participants will have up to 3 DEXA scan x-rays per year. - Participants may have: - annual bone x-rays. - liver biopsies every few years. A needle will be inserted into the liver to obtain a small piece. Participants will sign a separate consent for this. - Participants must be seen regularly by their local doctors and have blood tests at least every 3-6 months at home.
This study plans to learn more about immune responses in intestinal (gut) tissue in people with human immunodeficiency virus (HIV) infection. This study will determine whether change in the composition of gut bacteria in HIV infected individuals is related to a high prevalence of chronic gut inflammation and metabolic disease. The investigators will also investigate immune-modulatory properties of specific bacteria that correlate with disease both by characterizing which functional genes are selected for in their genomes and by stimulating immune cells isolated from blood and gut tissue with bacterial isolates. This work will establish whether gain/loss of bacterial drivers/suppressors of information in the gut contributes to metabolic disease in HIV-infected individuals.
Human lipodystrophies (lipoD) represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial.3, 4 Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Acquired lipoD can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of fat in the upper part of the body contrasting with accumulation in the lower part. The most common forms of lipoD are iatrogenic. In human immunodeficiency virus-infected patients, some first-generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations. Genetic forms are very uncommon: recessive generalized congenital lipoD result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2 (AGPAT2). Dominant partial familial lipoD result from mutations in genes encoding the nuclear protein lamin A/C or the adipose transcription factor PPARgamma. Importantly, LMNA mutations are also responsible for metabolic laminopathies, resembling the metabolic syndrome and progeria, a syndrome of premature aging. Molecular genetic bases of many rare forms of genetic lipoD remain to be elucidated.
Lipodystrophies are part of a clinically heterogeneous group of disorders characterized by loss (lipoatrophies) and / or accumulation of fat, which usually results in a change of normal tissue surface. Millions of plastic and reconstructive surgeries are performed annually to repair soft tissue defects due to trauma, tumor resection and congenital defects. Surgical options for lipoatrophy, the lipodystrophy type characterized by subcutaneous adipose tissue atrophy, include: Transfer of autologous fat, Dermis - fat graft, Skin flaps and Commercially available fillers. Currently, the most commonly filler agent used for the lipodystrophy treatment is polymethylmethacrylate, considered permanent and with a history of short- and medium-term adverse effects. Biocompatible and temporary filler agents such as hyaluronic acid, polylactic acid and collagen have been used for over 25 years for cosmetic purposes and in lipoatrophies. More recently, the use of autologous fibroblasts proved to be efficient solving acne scars and enabling dermis regeneration. Studies in mice showed that the combination of pre - adipocytes with a biomaterial is much more effective in tissue reconstitution than the injection of adipose tissue only, providing volume and also stimulating cell proliferation and differentiation with increased production of extracellular matrix. This project aims a phase I clinical trial of a filler agent, composed of mesenchymal stem cells derived from autologous adipose tissue associated with hyaluronic acid.
Artefill is an injectable facial filler device that is currently approved by the FDA for the correction of nasolabial folds. This study seeks to examine the use of Artefill in the treatment of HIV associated facial lipoatrophy. Facial lipoatrophy (facial fat loss) related to HIV is a stigmatizing condition characterized by loss of facial fat, most notably in the cheeks and temples.
This will be a two-part study in healthy adults. Part A is a phase 1, non-randomized, open label, single-dose, single-centre mass balance study utilizing a radiolabeled dose to investigate the recovery, excretion, and pharmacokinetics of oral GSK1265744 in a cohort of 6 healthy adult male subjects. Subjects will undergo a pre-study screening visit within 30 days of the first dose and those who successfully pass pre-study assessments and meet eligibility criteria will be enrolled into the study to receive the equivalent of a 30 mg dose of GSK1265744 as an oral solution, containing approximately 70 microcuries (mcg Ci) [0.96 millisieverts (mSv)] of radioactivity under fasted conditions. Blood, urine and fecal samples will be collected for a maximum of 504 hours (21 days) following study drug administration. In Part B, approximately 10 healthy male and female subjects will be enrolled to evaluate the single-dose safety, tolerability and PK of supratherapeutic dose of GSK1265744 150 mg compared with placebo. Each subject will receive a single dose of GSK1265744 150 mg or placebo on Day 1 under fasting conditions in the morning. Blood, urine and fecal samples will be collected for 336 hours (14 days) following dosing.
Sleep-disordered breathing is characterized primarily by partial or total upper airway obstruction during sleep. The most common form of sleep-disordered breathing is obstructive sleep apnea (OSA) due to recurrent collapse of the upper airway with the onset of sleep state. The major risk factors associated with the development of sleep apnea are obesity and male sex. The investigators have also found a high prevalence of OSA in HIV infected men and women, particularly among those with central lipohypertrophy, which is a common finding in HIV-infected persons receiving antiretroviral therapy. Currently, our overall hypothesis is that visceral adiposity, as seen in HIV-infected persons with central lipohypertrophy, alters both mechanical properties and compensatory neuromuscular responses leading to upper airway obstruction. Based on our most recent findings in the non-HIV population, the investigators demonstrate that obesity is associated with elevations in the upper airway load (passive Pcrit) that are counterbalanced by compensatory upper airway neural responses. Moreover, the investigators have found that female sex, peripheral adiposity, and younger age are associated with increased compensatory neuromuscular responses, while male sex, central adiposity, and older age are associated with blunted compensatory responses. The loss of the compensatory neuromuscular responses leads to obstructive sleep apnea. Among HIV-infected patients with central lipohypertrophy, tesamorelin (Egrifta), a growth hormone releasing hormone (GHRH) analogue, is approved for the reduction of visceral adipose tissue. The investigators hypothesize that tesamorelin therapy will reverse both the mechanical and neurocompensatory alterations associated with increased central obesity. In this project the investigators will determine whether tesamorelin affects sleep apnea severity and compensatory neuromuscular responses of the upper airway on sleep and breathing in men and women with HIV infection. The proposed studies are designed to elucidate the pathophysiologic basis for the development of obstructive sleep apnea in this population. The studies also provide insights into the neurohumoral regulation of upper airway function, and potentially new approaches to the treatment for sleep-disordered breathing.
White adipose tissue-related diseases spread from excess (obesity) to lack (lipoatrophies) through aberrant distribution (lipodystrophies), these 3 different disorders being paradoxically able to induce a metabolic insulin resistance syndrome. The respective part of quantitative and qualitative anomalies of adipose tissue, gluco- and lipo-toxicity, liver and muscle insulin resistance, low-grade fat inflammation and immune alterations are not perfectly understood in the metabolic syndrome yet. Therefore, the aim of this study is to assess different cytokines, especially interleukin 7, and metabolic parameters as well as fat mass distribution with DEXA and RMN, in different models of fat distribution, including normal-weight, obese and lipodystrophic patients. A plasma serum, gene and adipose tissue bank will be constituted at the same time to improve our knowledge in disorders linking fat mass, insulin resistance and immunity, especially in lipodystrophies, a rare monogenic model of insulin resistance.