Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

ABSTRACT:

Context

Familial partial lipodystrophy (FPLD) is most commonly caused by pathogenic variants in LMNA and PPARG. Leptin replacement with metreleptin has largely been studied in the LMNA group.

Objective

To understand the efficacy of metreleptin in PPARG vs LMNA pathogenic variants and investigate predictors of metreleptin responsiveness.

Design

Subgroup analysis of a prospective open-label study of metreleptin in lipodystrophy.

Setting

National Institutes of Health, Bethesda, Maryland.

Participants

Patients with LMNA (n = 22) or PPARG pathogenic variants (n = 7), leptin <12 ng/mL, and diabetes, insulin resistance, or high triglycerides.

Intervention

Metreleptin (0.08 to 0.16 mg/kg) for 12 months.

Outcome

Hemoglobin A1c (HbA1c), lipids, and m

SUBMITTER: Sekizkardes H 

PROVIDER: S-EPMC6563798 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature