ArticleThe Journal of clinical endocrinology and metabolism2019
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
Article in The Journal of clinical endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 3 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 3 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- Clinical Spectrum ofCells · 2023Pooled it
- Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function.The Journal of clinical endocrinology and metabolism · 2022Trial
- Selective targeting of angiopoietin-like 3 (ANGPTL3) with vupanorsen for the treatment of patients with familial partial lipodystrophy (FPLD): results of a proof-of-concept study.Lipids in health and disease · 2021Trial
- A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.Endocrinology · 2026Article
- Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a PathogenicThe application of clinical genetics · 2026Article
- Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment.Current diabetes reports · 2025Review
- Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy.Diabetology & metabolic syndrome · 2025Article
- The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of theInternational journal of molecular sciences · 2025Article
- Navigating Lipodystrophy: Insights from Laminopathies and Beyond.International journal of molecular sciences · 2024Review
- Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients.Kidney international · 2024Article
- Case report: two novel PPARG pathogenic variants associated with type 3 familial partial lipodystrophy in Brazil.Diabetology & metabolic syndrome · 2024Article
- Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene.Frontiers in genetics · 2024Article
- High-throughput Second-generation Sequencing Technology Assisted Diagnosis of Familial Partial Lipodystrophy (Type 2 Kobberling-Dunnigan Syndrome): A Case Report.Combinatorial chemistry & high throughput screening · 2024Article
- Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.Frontiers in endocrinology · 2024Review
- Genotype-stratified treatment for monogenic insulin resistance: a systematic review.Communications medicine · 2023Article
- Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.International journal of molecular sciences · 2023Observational
- Systematic review of genotype-stratified treatment for monogenic insulin resistance.medRxiv : the preprint server for health sciences · 2023Article
- Phenotypic Differences Among Familial Partial Lipodystrophy Due toJournal of the Endocrine Society · 2022Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
contextFamilial 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.
objectiveTo understand the efficacy of metreleptin in PPARG vs LMNA pathogenic variants and investigate predictors of metreleptin responsiveness.
designSubgroup analysis of a prospective open-label study of metreleptin in lipodystrophy.
settingNational Institutes of Health, Bethesda, Maryland.
participantsPatients with LMNA (n = 22) or PPARG pathogenic variants (n = 7), leptin <12 ng/mL, and diabetes, insulin resistance, or high triglycerides.
interventionMetreleptin (0.08 to 0.16 mg/kg) for 12 months. OUTCOME: Hemoglobin A1c (HbA1c), lipids, and medication use at baseline and after 12 months.
resultsBaseline characteristics were comparable in patients with PPARG and LMNA: HbA1c, 9.2 ± 2.3 vs 7.8 ± 2.1%; median [25th, 75th percentile] triglycerides, 1377 [278, 5577] vs 332 [198, 562] mg/dL; leptin, 6.3 ± 3.8 vs 5.5 ± 2.5 ng/mL (P > 0.05). After 12 months of metreleptin, HbA1c declined to 7.7 ± 2.4 in PPARG and 7.3 ± 1.7% in LMNA; insulin requirement decreased from 3.8 [2.7, 4.3] to 2.1 [1.6, 3.0] U/kg/d in PPARG and from 1.7 [1.3, 4.4] to 1.2 [1.0, 2.3] U/kg/d in LMNA (P < 0.05). Triglycerides decreased to 293 [148, 406] mg/dL in LMNA (P < 0.05), but changes were not significant in PPARG: 680 [296, 783] mg/dL at 12 months (P = 0.2). Both groups were more likely to experience clinically relevant triglyceride (≥30%) or HbA1c (≥1%) reduction with metreleptin if they had baseline triglycerides ≥500 mg/dL or HbA1c >8%.
conclusionMetreleptin resulted in similar metabolic improvements in patients with LMNA and PPARG pathogenic variants. Our findings support the efficacy of metreleptin in patients with the two most common genetic causes of FPLD.
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