Evidence map›Paper›PMID 42222073›Full record

ArticleFrontiers in endocrinology2026

Case Report: Twenty years of metreleptin therapy in congenital generalized lipodystrophy type 1: the longest reported follow-up to date.

Elise Van der Borght, Bart Van der Schueren, Roman Vangoitsenhoven, David Cassiman, Baris Akinci, Rebecca J Brown, Elif A Oral, Ann Mertens, Pieter-Jan Martens

Abstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Elise Van der BorghtDepartment of Endocrinology, University Hospitals Leuven - Catholic University (KU) Leuven, Leuven, Belgium.
Bart Van der SchuerenDepartment of Endocrinology, University Hospitals Leuven - Catholic University (KU) Leuven, Leuven, Belgium.
Roman VangoitsenhovenDepartment of Endocrinology, University Hospitals Leuven - Catholic University (KU) Leuven, Leuven, Belgium.
David CassimanDepartment of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
Baris AkinciIzmir Biomedicine and Genome Center & Dokuz Eylül University Technopark (DEPARK), Dokuz Eylul University Health Campus, Izmir, Türkiye.
Rebecca J BrownDevision of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, United States.
Elif A OralDevision of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, United States.
Ann MertensDepartment of Endocrinology, University Hospitals Leuven - Catholic University (KU) Leuven, Leuven, Belgium.
Pieter-Jan MartensDepartment of Endocrinology, University Hospitals Leuven - Catholic University (KU) Leuven, Leuven, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital generalized lipodystrophy (CGL) is a rare disorder marked by near-total loss of adipose tissue and severe metabolic disturbances due to leptin deficiency and the inability to store nutrients in adipose tissue effectively. Metreleptin is the only approved leptin replacement therapy for this condition. Here we present the >20-year follow-up of two sisters with CGL type 1 (AGPAT2 deficiency, OMIM# 608594), enrolled in early metreleptin trials. Clinical outcomes, adherence, immunogenicity, and pregnancies were assessed. Both cases showed rapid and sustained metabolic improvement after metreleptin initiation, allowing insulin discontinuation and triglyceride normalization. Menstrual cycles resumed within six months; allowing both to carry successful pregnancies while continuing metreleptin. Both cases experienced reduced treatment adherence over time, linked to psychological distress. One case developed both anti-drug antibodies and neutralizing activity through immune based assay after 14 years, but without significant clinical impact. In conclusion, these cases highlight both the sustained metabolic benefits of therapy and the complex challenges that may arise over time, such as antibody formation and difficulties in maintaining long-term adherence. Documentation of unmet medical needs can provide guidance and impetus for improved therapeutic approaches to achieve optimum quality of life.

Indexed as

LeptinLipodystrophy, Congenital GeneralizedAdultFemaleFollow-Up StudiesHumansPregnancyLeptinmetreleptinAGPAT2compliancecongenital generalized lipodystrophy type 1metreleptin therapypregnancy

Identifiers

PMID42222073
PMCPMC13216765

What Socratic holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.