Clinical Trials

Informed Consent

Deciding to join a clinical study must be a well-informed and voluntary decision. It's crucial that you fully understand your duties, the study's duration, and any medication and/or lifestyle modification requirements before giving your consent. Should the research necessitate medication, consulting with your healthcare provider is recommended. Additionally, gaining clarity on the study's primary objectives and how your involvement contributes will help inform your decision to participate. Remember, seeking clarification through questions is not just encouraged—it's important for your safety and understanding.

Clinical Trials Currently Recruiting

Study to Evaluate the Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects With PL (METRE-PL)

This is a Phase III, double-blind, placebo-controlled, safety and efficacy study of daily SC metreleptin in subjects with Partial Lipodystrophy.

Study Contacts:

Name: Carlos Reyes-Vidal, MD

Phone Number: 212-305-4921

Email: csr52@columbia.edu

Name: Pamela Freda, MD

Phone Number: 212-305-2254

The LD Lync Study - Natural History Study of Lipodystrophy Syndromes

Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, recurrent episodes of acute pancreatitis, cirrhosis and other morbidities complicate the lives of these patients.

In the last few years, several genes for CGL (AGPAT2, BSCL2, CAV1 and PTRF); FPL (LMNA, PPARG, AKT2, CIDEC, LIPE, PLIN1, PCYT1A and ADRA2A); MAD (LMNA and ZMPSTE24); APS (LMNA); autoinflammatory (PSMB8); NPS (FBN1, CAV1); SHORT syndrome (PIK3R1); and MDP syndrome (POLD1) have been identified. However, there is paucity of information about the natural history of these rare syndromes, especially genotype-specific causes of morbidity and mortality.

To overcome the problems outlined above, this multicenter, collaborative, prospective, observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes. Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical, metabolic, morbidity and mortality data. Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study. Clinical data such as vitals, laboratory results and anthropometric measurements will also be collected from patients' medical records if available.

Study Contacts:

Name: Adam Neidert, M.S.

Phone Number: 734-615-0539

Email: aneidert@med.umich.edu

Name: Elif Oral, M.D.

Phone Number: 734-615-7271

Email: eliforal@med.umich.edu

Registry for Patients With Lipodystrophy (ECLip Registry)

The European Consortium of Lipodystrophies (ECLip), an association of European experts on lipodystrophy, has launched a registry (OSSE) for lipodystrophies which is committed to help to improve the research conditions by consolidating this kind of information in a registry. edical centers from all over the world where patients are treated with lipodystrophy are invited to join the ECLip Registry and to become ECLip Registry members.

Contacts:

Name: Julia von Schnurbein, Dr.

Phone Number: 0049 731 500 ext 57401

Email: julia.schnurbein@uniklinik-ulm.de

Name: Martin Wabitsch, Prof. Dr.

Phone Number: 0049 731 500 ext 57401

Email: martin.wabitsch@uniklinik-ulm.de

Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)

The feasibility of adipose tissue triglyceride labeling in patients with FPLD will be assessed in this non-interventional protocol. Specifically, subjects with FPLD (n=5) and control subjects without FPLD (n=5) will undergo isotope administration followed by abdominal and femoral subcutaneous fat biopsies.

Contacts:

Name: Megan S Startzell, R.N.

Phone Number: (301) 402-6371

Email: megan.startzell@nih.gov

Name: Rebecca J Brown, M.D.

Phone Number: (301) 594-0609

Email: brownrebecca@mail.nih.gov

Natural History of Pregnancy and Pregnancy Outcomes in Metreleptin-Treated vs Untreated Subjects With Lipodystrophy

This natural history study will collect data about the effects of taking metreleptin while pregnant. Eligibility is women aged 18 years or older with lipodystrophy who have been pregnant. Women who did and who did not take metreleptin during their pregnancies are needed. Children of women with lipodystrophy who took this drug during pregnancy are also needed.

Contacts:

Name: Megan S Startzell, R.N.

Phone Number: (301) 402-6371

Email: megan.startzell@nih.gov

Name: Rebecca J Brown, M.D.

Phone Number: (301) 594-0609

Email: brownrebecca@mail.nih.gov

Assess the Possibility of Diagnosing Diabetes and Rediabetes Following Oral Induced Hyperglycemia in Patients With Dunnigan's Partial Familial Lipodystrophy by Replacing 75 g of Glucose With a Standardized Carbohydrate Breakfast and Continuous Interstitial Monitoring Glucose) (HGPO-DUN)

Dunnigan's syndrome is a partial familial lipodystrophy due to a mutation in the Lamine A LMNA gene. Clinically, patients with Dunnigan's have an absence of subcutaneous fatty tissue which mainly affects the lower part of the body and leads to severe insulin resistance responsible for early diabetes. To detect these metabolic complications as early as possible, an annual follow-up of the subjects is recommended with the performance of an OGTT test annually in non-diabetic subjects. This problem is identical for patients with cystic fibrosis leading to the same recommendation. However, whether in our experience of monitoring patients with Dunningan's lipodystrophy, in subjects at risk of diabetes or in subjects with cystic fibrosis, the OGTT test and even more so its repetition is poorly accepted, which can lead to lack of patient follow-up. An alternative solution to the OGTT is therefore justified.

Contact:

Estelle Nobecourt
Phone Number: 0262359000

Email: promotion.drci@chu-reunion.fr

Carotid Doppler Peak Velocity Variation in Liposuction Fluid Management

This study aims to compare the hemodynamic parameters, postoperative plethysmography variability index, the total amount of postoperative intravenous fluid administration needed, and the urine output of two methods of fluid resuscitation during liposuction surgery. One method involves using carotid artery Doppler peak velocity variation, while the other is the conventional fluid ratio. The research will involve 50 female participants who have undergone liposuction and will be divided into two groups.

Contacts:

Name: Sergio Soto Hopkins, M.D.

Phone Number: +526621191347

Email: sergio_sotohopkins@hotmail.com

Name: Cesar Gualajara, M.D.

Phone Number: 5629396850

Email: gualamd9512@gmail.com

MEASuRE: Metreleptin Effectiveness And Safety Registry (MEASuRE)

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.

Contact:

Name: Lori Hartnett

Phone Number: +3905212791

Email: clinicaltrials_info@chiesi.com

A Study of the Safety of Mibavademab in Pediatric and Adult Participants Switching From Metreleptin to Mibavademab for the Treatment of Generalized Lipodystrophy (GLD)

This study is researching an experimental drug called mibavademab. The study is focused on participants with GLD who have been on metreleptin treatment for at least 6 months with no change in dose for the last 3 months.

Contact:

Name: Clinical Trials Administrator

Phone Number: 844-734-6643

Email: clinicaltrials@regeneron.com

Open-label Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy

This is an Open Label, Phase IV, Post Authorisation Study to Evaluate the Efficacy, Safety and Immunogenicity of Daily Subcutaneous Metreleptin Treatment in people with Partial Lipodystrophy

Contact:

Name: Janet Boylan

Phone Number: +3905212791

Email: clinicaltrials_info@chiesi.com

Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy

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.

Contacts:

Name: Megan S Startzell, R.N.

Phone Number: (301) 402-6371

Email: megan.startzell@nih.gov

Name: Rebecca J Brown, M.D.

Phone Number: (301) 594-0609

Email: brownrebecca@mail.nih.gov

Open-label Study to Evaluate Metreleptin in Children Under 6 Years of Age With Generalised Lipodystrophy

This is an open-label, Phase 3b study to evaluate effectiveness, safety and pharmacokinetic parameters of metreleptin in patients under 6 years of age with generalised lipodystrophy and associated diabetes mellitus and/or hypertriglyceridaemia.

Contact:

Name: Janet Boylan

Phone Number: +3905212791

Email: clinicaltrials_info@chiesi.com

Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy

This Phase 3 study is an Open Label Extension of the APG-20 Study To Evaluate the Long-term Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects with Partial Lipodystrophy.

Contact:

Name: Lori Hartnett, PhD

Phone Number: +3905212791

Email: clinicaltrials_info@chiesi.com

Impact of Lipodystrophy on the Inflammatory State of Non-diabetic Dunnigan Reunion Island Subjects (LIPOKINES)

Few data and small numbers affect the inflammatory profile of Dunnigan patients. The levels of certain pro-inflammatory biomarkers would be found higher in these subjects compared to control individuals. However, in these studies, several confounding factors were not taken into account such as smoking, an underlying chronic inflammatory disease such as diabetes and could limit the interpretation of the results. There is no other observation of the anti-inflammatory status of these patients.

Contact :
Name: Mathilde Simonson
Phone Number: 0262359000

Email: mathilde.simonson@chu-reunion.fr

The Cleveland Cardiometabolic Cohort

In this observational study, the investigators will examine the changes in body composition in HIV-infected subjects before and after initiation of HIV treatment, and look at the correlations with changes in cardiometabolic indices such as endothelial function and coronary calcium scoring.

Contacts:

Name: Danielle Labbato, BSN

Phone Number: 216-844-2739

Email: danielle.labbato@uhhospitals.org

Name: Grace McComsey, MD

Email: mccomsey.grace@clevelandactu.org

Cyclophosphamide in the Treatment of Associated Acquired Lipodystrophy Syndrome With Type 1 Diabetes

This study evaluates the change of insulin resistance and glucose metabolism of patients with panniculitis associated acquired lipodystrophy syndrome and type 1 diabetes with the treatment of cyclophosphamide.

Contacts:

Name: Feihong Luo

Phone Number: +862164931226 ext +862164931226

Email: luofh@fudan.edu.cn

Name: Zhenran H Xu

Phone Number: +862164931226 ext +862164931226

Email: xu_zhenran@163.com

Low Energy Diet and Familial Partial Lipodystrophy

To evaluate the therapeutic efficacy and metabolic impact of a low energy diet (LED) in people with familial partial lipodystrophy and diabetes. Participants will be provided with a LED (total diet replacement) for 12 weeks, before the introduction of a stepped food transition. Metabolic effects will continue to be assessed for 1 year. In order to better understand why this intervention changes insulin sensitivity, we will also collect adipose and muscle tissue samples at baseline and 12 weeks into the intervention in participants willing to have these procedures performed. These samples will be used for histological, metabolite, gene expression and protein expression analyses.

Contact:

Name: Mandour O Mandour

Phone Number: 01223768625

Email: mom30@cam.ac.uk

Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance

Background:

Lipodystrophy (LD) syndromes are a group of rare disorders that affect how a person s body can store and use fat tissue. Many people with LDs become severely insulin resistant. Some people are insulin resistant because of a variant in the insulin receptor gene. Insulin resistance causes many health problems.

Objective:

To learn if blocking the effects of growth hormone in the body will help people with severe insulin resistance.

Contacts:

Name: Megan S Startzell, R.N.

Phone Number: (301) 402-6371

Email: megan.startzell@nih.gov

Name: Rebecca J Brown, M.D.

Phone Number: (301) 594-0609

Email: brownrebecca@mail.nih.gov

Susceptibility to Infectious Diseases in obEsity: an endocRine trAnslational socioLogic Evaluation, "SIDERALE" (SIDERALE2020)

The relation between chronodisruption, obesity and infections has not been investigated, and a first proof of concept (Pilot study) will aim at investigating it. Three cohorts of obese patients with different aetiology (essential obesity, obesity with type 2 diabetes, genetic forms of obesity) and a cohort of lipodystrophic patients will be enrolled in the study, which is designed as a two-phases protocol. During the first phase (0-12 weeks (w)) patients will be subjected to dietary intervention with hypocaloric MD; in a second phase (12-24w), melatonin 1mg/die before sleep will be added to the hypocaloric MD. The susceptibility to infections will be investigated through the evaluation of 1) the number of events - i.e. flu- or flulike syndromes, skin, respiratory, digestive, urinary infections-per patient of the 4 groups and the blood assays to detect the infection with Epstein-Barr, Cytomegalovirus, Varicella, Measles and SARS-CoV-2 IgG and IgM; hepatitis C and hepatitis B core antibodies and Quantiferon TB Gold, 2) the clock genes rhythm and TLRs expression in patient immune cells at baseline, 12w and 24w.The mutual relationship between biomedical values, environmental and social conditions, and lifestyle habits will be evaluated by structured questionnaires. Validation of questionnaires to explore the susceptibility to infections is another delivery planned for the current study.

Contact:

Name: Annamaria Colao, Prof

Phone Number: +393285390000

Email: colao@unina.it

Body Composition and Adipose Tissue in HIV

In this study, the investigators will examine the effect of therapy with the Growth Hormone Releasing Hormone (GHRH) analog tesamorelin on body composition in patients with HIV lipodystrophy and central adiposity. This study is a single arm prospective study of tesamorelin therapy of patients with HIV lipodystrophy. Subjects will do body composition testing, adipose tissue biopsy, metabolic rate measurements and insulin sensitivity assessment before, 6 and 12 months after daily injections of tesamorelin 2 mg by subcutaneous injection.

Contacts:

Name: Carlos Reyes-Vidal, MD

Phone Number: 212-305-4921

Email: csr52@columbia.edu

Name: Pamela Freda, MD

Phone Number: 212-305-2254