Assessing fat tissue in people with familial partial lipodystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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.
• Email: megan.startzell@nih.gov
• Phone: (301) 402-6371

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.