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Efficacy of metreleptin treatment in familial partial lipodystrophy due to PPARG vs LMNA pathogenic variants

Journal of Clinical Endocrinology and Metabolism Mar 15, 2019

Sekizkardes H, et al. - In this subgroup analysis of a prospective, open label study, researchers tested the effectiveness of metreleptin (0.08 to 0.16 mg/kg) in PPARG vs LMNA pathogenic variants and examined factors that could predict metreleptin responsiveness. Participants in the study were patients with LMNA (n=22) or PPARG pathogenic variants (n=7), leptin <12ng/ml, and diabetes, insulin resistance or high triglycerides. In patients with LMNA and PPARG pathogenic variants, metreleptin resulted in comparable metabolic improvements. Efficacy of metreleptin in patients with the two most common genetic causes of familial partial lipodystrophy, pathogenic variants in LMNA and PPARG, was supported in this analysis.

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