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

NCT05996536 | Recruiting

• 2 other identifiers: 10001651001651-DK
• Study Type: observational
• Target: 14
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Lipodystrophy

Keywords

Lipodystrophy; Adipose Tissue

Outcome Measures

Primary Outcomes (2)

• Feasibility of performing subcutaneous adipose tissue biopsy in patients with partial lipodystrophy.

  Mass of adipose tissue obtained from each biopsy.

  10 days

• To determine the feasibility of detecting labeled TG/FA in femoral adipose tissue biopsy samples in patients with lipodystrophy, as compared to abdominal adipose tissue biopsy samples in the same patients, and as compared to controls.

  Ability to detect labeled triglyceride and fatty acid in each biopsy.

  10 days

Study Arms (2)

Non-lipodystrophic controls

Non-lipodystrophic controls

Partial Lipodystrophy

Partial Lipodystrophy

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with partial lipodystrophy and non-lipodystrophic controls.

You may qualify if:

• In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• Stated willingness to comply with all study procedures and availability for the duration of the study
• Age \>= 18 and \<= 65 years
• Agreement to adhere to Lifestyle Considerations throughout study duration.
• Weight stability (per the subject) within approximately 3 kg in the 3 months prior to screening, with no plans to actively gain or lose weight during the study period.
• Clinical diagnosis of partial lipodystrophy based on reduction in adipose tissue outside the normal range in selected adipose depots (including, at a minimum, the gluteofemoral depot) with preservation of adipose tissue in other depots.
• Adequate abdominal and thigh adipose tissue for feasible subcutaneous fat biopsy, as judged by the investigator.
• CONTROL MATCHING CRITERIA:
• Sex
• Age plus-minus 5 years
• Diabetic status
• Abdominal circumference plus-minus 10 cm
• Height plus-minus 5 cm

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Uncontrolled diabetes, defined as HbA1C \>8% at screening.
• Use of insulin secretagogues (sulfonylureas) in week prior to Study Visit 1.
• Changes in insulin dose \>30% of total daily dose in the 2 weeks prior to Study Visit 1.
• Use of niacin in the week prior to Study Visit 1.
• Use of antiplatelets that cannot be safely held for the appropriate duration prior to each biopsy visit, including Plavix (one week prior to biopsy), aspirin (one week prior to biopsy) and NSAIDS (48 hours prior to biopsy).
• Chronic use of anticoagulant medications that cannot be safely stopped for an appropriate duration of time prior to a biopsy procedure.
• Lipemia defined as non-fasting triglycerides of \>1000 mg/dL at screening.
• Renal dysfunction defined as GFR \<60 mL/min/1.73 m\^2 at screening.
• Consuming extreme macronutrient diet (e.g., very low-carbohydrate, high fat diets such as ketogenic, paleo or Atkins diets, among others).
• Positive pregnancy test or breastfeeding at screening.
• History of HIV, hepatitis B or C infection.
• History of acquired lipodystrophy.
• Clinically significant abnormalities in thyroid function, liver function, blood counts, or blood minerals as assessed by screening labs.
• Inability to comply with planned study procedures.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Lipodystrophy

Condition Hierarchy (Ancestors)

Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Rebecca J Brown, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Megan S Startzell, R.N.

CONTACT

(301) 402-6371; megan.startzell@nih.gov

Rebecca J Brown, M.D.

CONTACT

(301) 594-0609; brownrebecca@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 16, 2023
• First Posted: August 18, 2023
• Study Start: January 3, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: March 12, 2026

Record last verified: 2026-03-10

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Scientific data included in published manuscripts will be made available at the time of publication; all other generated scientific data will be shared no later than the termination date of the study.
• Access Criteria: To maximize the appropriate sharing of scientific data and protect research participants privacy and confidentiality, reuse of this dataset should use the following Data Use Limitations (DULs) under Controlled Access that is made available by a data repository only after approval of the request by the repository's independent review panel process.@@@-Health/Medical/Biomedical - The dataset can only be used for studying health, medical, or biomedical conditions and does not include the study of population origins or ancestry.@@@-IRB Approval Required (IRB) - The requesting institution s IRB or equivalent body must approve the requested use.

Locations

US (1)