NCT05996536

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

A Pilot Study to Assess Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 14 (estimated)
• Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) · NIH
• Sex: All
• Age: 18 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

Background: People with familial partial lipodystrophy (FPLD) do not store fat in the body normally. This can lead to serious illnesses such as diabetes and heart disease. To learn more about FPLD, researchers want to compare the fat tissue in people with this disease to the fat tissue of healthy people. Objective: To collect and analyze samples of fat tissue in people with and without FPLD. Eligibility: People aged 18 to 65 years with FPLD. Healthy adults are also needed. Design: Participants will be screened. They will have a physical exam. The size and shape of their body will be measured. They will have an imaging scan to measure their bones, muscle, and fat. Participants will be given heavy water to drink at home. The water contains a tracer to help measure the fat in their blood. They will drink 1 vial 3 times a day. After drinking the water for 9 days, participants will come to the clinic for a 3-day stay. They will eat only foods provided by the hospital; the foods will contain tracers. A needle will be inserted into a vein in the arm; participants will receive infusions of other tracers through this needle into their blood; this needle will also be used to draw blood samples for testing. On their third day in the clinic, participants will have biopsies: Small samples of fat will be removed from under the skin on the belly and thigh. Participants may return for a follow-up visit 8 days after leaving the clinic. Blood draws and fat tissue biopsies will be repeated.

Detailed description

Study Description: 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. Objectives: Primary objective: (1) To establish the technique of subcutaneous femoral adipose tissue biopsy in patients with FPLD, and subsequently, (2) to establish the feasibility of detecting labeled TG/FA in these adipose tissue biopsy samples. Secondary objectives: (1) To determine metabolic fluxes in healthy volunteers and patients with FPLD. (2) To determine if peripheral subcutaneous adipocytes are capable of fatty acid uptake and retention in patients with FPLD. (3) To assess standard metabolic parameters impacted by adipose fat storage capacity. (4) To assess different forms of circulating fat. (5) To determine feasibility of measuring adipose tissue lipoprotein lipase (LPL) activity. Endpoints: Primary Endpoints: (1) Feasibility of performing subcutaneous femoral adipose tissue biopsy in patients with FPLD and (2) presence of detectable stable isotope labeling in adipose tissue specimens. Secondary Endpoints: (1) Blood labeling of glucose, glycerol, palmitate, and saponified fatty acids and other metabolites, as feasible; (2) quantity of stable isotope labeling in adipose tissue specimens; (3) blood glucose, insulin, NEFA, beta-OH-butyrate; (4) blood TG, VLDL, chylomicrons, NEFA and complete lipoprotein panel by NMR; (5) adipose tissue LPL activity and (6) adipose tissue histologic analysis.

Conditions

• Lipodystrophy

Timeline

• Start date: 2024-01-03
• Primary completion: 2026-06-01
• Completion: 2026-06-01
• First posted: 2023-08-18
• Last updated: 2026-03-12

Locations

1 site across 1 country: United States