Assessing fat tissue in people with familial partial lipodystrophy

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

This study is testing a new way to look at fat tissue in people with familial partial lipodystrophy to better understand how their bodies store and use fat compared to healthy individuals.

Quick facts

• Study type: Observational
• Enrollment: 14 (estimated)
• Ages: 18 Years to 65 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT05996536 on ClinicalTrials.gov

What this trial studies

This observational study aims to evaluate the feasibility of labeling adipose tissue triglycerides in individuals with familial partial lipodystrophy (FPLD) compared to healthy controls. Participants aged 18 to 65 will undergo physical exams, imaging scans, and fat biopsies after consuming heavy water containing a tracer for nine days. The study seeks to establish techniques for fat biopsies and analyze metabolic parameters related to fat storage and utilization in both groups. The findings could enhance understanding of FPLD and its metabolic implications.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18 to 65 with a clinical diagnosis of familial partial lipodystrophy.

Not a fit: Patients with conditions unrelated to lipodystrophy or those outside the specified age range may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic strategies for patients with familial partial lipodystrophy.

How similar studies have performed: While this approach is novel in the context of FPLD, similar methodologies have been used in other metabolic studies with varying degrees of success.

Eligibility criteria

* INCLUSION CRITERIA:

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:

1. Stated willingness to comply with all study procedures and availability for the duration of the study
2. Age \>= 18 and \<= 65 years
3. Agreement to adhere to Lifestyle Considerations throughout study duration.
4. 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.

FPLD-specific inclusion criteria:

1. 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.
2. 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.

1. Sex
2. Age plus-minus 5 years
3. Diabetic status
4. Abdominal circumference plus-minus 10 cm
5. Height plus-minus 5 cm

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Uncontrolled diabetes, defined as HbA1C \>8% at screening.
2. Use of insulin secretagogues (sulfonylureas) in week prior to Study Visit 1.
3. Changes in insulin dose \>30% of total daily dose in the 2 weeks prior to Study Visit 1.
4. Use of niacin in the week prior to Study Visit 1.
5. 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).
6. Chronic use of anticoagulant medications that cannot be safely stopped for an appropriate duration of time prior to a biopsy procedure.
7. Lipemia defined as non-fasting triglycerides of \>1000 mg/dL at screening.
8. Renal dysfunction defined as GFR \<60 mL/min/1.73 m\^2 at screening.
9. Consuming extreme macronutrient diet (e.g., very low-carbohydrate, high fat diets such as ketogenic, paleo or Atkins diets, among others).
10. Positive pregnancy test or breastfeeding at screening.
11. History of HIV, hepatitis B or C infection.
12. History of acquired lipodystrophy.
13. Clinically significant abnormalities in thyroid function, liver function, blood counts, or blood minerals as assessed by screening labs.
14. Inability to comply with planned study procedures.
15. Inability of subject to understand and the willingness to sign a written informed consent document.
16. 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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Rebecca J Brown, M.D. — National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Study coordinator: Megan S Startzell, R.N.

Conditions Lipodystrophy; Adipose Tissue