LipodystrophyNCT05996536
Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)
An observational study of Lipodystrophy, run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Lipodystrophy
- How many people
- 14 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Jan 2024to 1 Jun 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with partial lipodystrophy and non-lipodystrophic controls.
Who may be able to join
- Common inclusion criteria (FPLD and Controls):
- 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.
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- FPLD-specific inclusion criteria:
- 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:
- When possible, control subjects will be individuals matched 1:1 with the FPLD subjects based on the following criteria (in order of priority). These criteria will be considered when assessing eligibility but are not strict inclusion criteria.
- Sex
- Age plus-minus 5 years
- Diabetic status
- Abdominal circumference plus-minus 10 cm
- Height plus-minus 5 cm
Who cannot join
- 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).
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- 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.
- Inability of subject to understand and the willingness to sign a written informed consent document.
- Any condition which in the opinion of the investigator increases risk to subjects, prevents subject from complying with study procedures, prevents the subject from completing the study, or interferes with the interpretation of study results.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: A Pilot Study to Assess Feasibility of Adipose Tissue Triglyceride (TG) Labelling in Familial Partial Lipodystrophy (FPLD)
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.
Read more
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.
Read the 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
- Keywords
- Lipodystrophy, Adipose Tissue
- Medical subject headings
- Lipodystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Non-lipodystrophic controls | Non-lipodystrophic controls | |
| Partial Lipodystrophy | Partial Lipodystrophy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Feasibility of performing subcutaneous adipose tissue biopsy in patients with partial lipodystrophy.
Mass of adipose tissue obtained from each biopsy.
Measured: 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.
Measured: 10 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Aug 2023
- Study start3 Jan 2024
- Primary completion1 Jun 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LipodystrophyStudies of the same condition, open and under way.
- More trials run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 14 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Rebecca J Brown, M.D., Principal investigator, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05996536
- Sponsor's protocol ID
- 10001651
- Other IDs
- 001651-DK
- Status last verified
- 14 Aug 2026
- First submitted
- 16 Aug 2023
- Last updated
- 18 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All IPD that underlies a publication will be shared.