SYSTEMATIC LITERATURE REVIEW OF CLINICAL AND ECONOMIC STUDIES IN LIPODYSTROPHY SYNDROMES
Author(s)
Laura Cornic, MSc, PharmD1, Baris Akinci, M.D.2, Caroline Barwood, MSc3, Laurence Tilley, MPharmacol3, Jessica Dempsey, BSc4, Amy Harris, MSc5.
1Chiesi Farmaceutici S.p.A, Île-de-France, France, 2Izmir Biomedicine and Genome Center & DEPARK, Izmir, Turkey, 3Acumetis, London, United Kingdom, 4London, United Kingdom, 5Acumetis, London, EC1R 3AW, United Kingdom.
1Chiesi Farmaceutici S.p.A, Île-de-France, France, 2Izmir Biomedicine and Genome Center & DEPARK, Izmir, Turkey, 3Acumetis, London, United Kingdom, 4London, United Kingdom, 5Acumetis, London, EC1R 3AW, United Kingdom.
OBJECTIVES: To identify existing clinical, cost-effectiveness, health-related quality of life (HRQoL) and cost and resource use studies conducted for generalised lipodystrophy (GL) and partial lipodystrophy (PL).
METHODS: A systematic literature review (SLR) was conducted in October 2025. Searches were conducted in Embase, Medline, and Cochrane library using pre-determined search strategies, supplemented by grey literature and conference proceedings from January 2019 onwards. Studies were assessed for inclusion following the population, intervention, comparator, outcomes and study type principle. All included studies underwent quality assessment using the Downs and Black checklist for clinical studies and Drummond and Jefferson criteria for cost-effectiveness studies.
RESULTS: Of the initial 3,282 references identified across all review questions, 123 met the clinical criteria, three met the cost-effectiveness criteria, four met the HRQoL criteria and six met the cost and resource use criteria. The SLR identified 62 clinical publications evaluating metreleptin, of which 14 were unique studies; the remaining 61 references assessed supportive care (SC). Where reported, metreleptin-treated patients showed a median reduction in HbA1c of 1.6% from baseline and a median decrease in fasting triglycerides of 50.7%. Median reduction from baseline in alanine aminotransferase and aspartate aminotransferase versus metreleptin-treated patients was 25 U/L and 18 U/L, respectively. Additional studies suggested benefits of metreleptin across fasting leptin, satiety measures, pancreatitis, organ damage, liver cirrhosis, and mortality. One study reported an improved lipodystrophy severity score following metreleptin; GL patients had the greatest benefit, with 54% of patients achieving ≥25% score improvement at 12 months. Across HRQoL studies, metreleptin improved outcomes including quality adjusted life years versus SC. Economic studies demonstrated that metreleptin is recommended to treat lipodystrophy in the United Kingdom, Canada, and Scotland under the ultra-orphan pathway.
CONCLUSIONS: Identified studies suggest that metreleptin provides meaningful clinical, HRQoL and economic benefits for patients with GL and PL.
METHODS: A systematic literature review (SLR) was conducted in October 2025. Searches were conducted in Embase, Medline, and Cochrane library using pre-determined search strategies, supplemented by grey literature and conference proceedings from January 2019 onwards. Studies were assessed for inclusion following the population, intervention, comparator, outcomes and study type principle. All included studies underwent quality assessment using the Downs and Black checklist for clinical studies and Drummond and Jefferson criteria for cost-effectiveness studies.
RESULTS: Of the initial 3,282 references identified across all review questions, 123 met the clinical criteria, three met the cost-effectiveness criteria, four met the HRQoL criteria and six met the cost and resource use criteria. The SLR identified 62 clinical publications evaluating metreleptin, of which 14 were unique studies; the remaining 61 references assessed supportive care (SC). Where reported, metreleptin-treated patients showed a median reduction in HbA1c of 1.6% from baseline and a median decrease in fasting triglycerides of 50.7%. Median reduction from baseline in alanine aminotransferase and aspartate aminotransferase versus metreleptin-treated patients was 25 U/L and 18 U/L, respectively. Additional studies suggested benefits of metreleptin across fasting leptin, satiety measures, pancreatitis, organ damage, liver cirrhosis, and mortality. One study reported an improved lipodystrophy severity score following metreleptin; GL patients had the greatest benefit, with 54% of patients achieving ≥25% score improvement at 12 months. Across HRQoL studies, metreleptin improved outcomes including quality adjusted life years versus SC. Economic studies demonstrated that metreleptin is recommended to treat lipodystrophy in the United Kingdom, Canada, and Scotland under the ultra-orphan pathway.
CONCLUSIONS: Identified studies suggest that metreleptin provides meaningful clinical, HRQoL and economic benefits for patients with GL and PL.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
SA23
Topic
Study Approaches
Topic Subcategory
Literature Review & Synthesis
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity)