Berardinelli-Seip congenital lipodystrophy
MONDO:0018883A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
Also known as: BSCL, Beradinelli-Seip syndrome, Berardinelli Seip syndrome, Berardinelli lipodystrophy syndrome, Brunzell syndrome, GCL, Seip-Bernardinelli syndrome, generalised congenital lipodystrophy
4 clinical trials for this condition and its sub-types, 0 tagged with Berardinelli-Seip congenital lipodystrophy itself.
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Browse by category →Sub-types of Berardinelli-Seip congenital lipodystrophy
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Rare leptin disorder patients gain access to experimental drug
Disease control Expanded accessThis program provides expanded access to REGN4461 (mibavademab) for people with rare diseases caused by deficient leptin signaling, such as generalized lipodystrophy and monogenic obesity. The drug aims to help control metabolic issues linked to these conditions. Participants rec…
Sponsor: Regeneron Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Massive european registry launches to unlock secrets of rare fat disorder
Knowledge-focused Recruiting nowThis study is a European registry for people with lipodystrophy, a rare condition where the body loses or lacks fat tissue. Researchers will follow up to 5,000 patients over time, collecting health data and genetic information. The goal is to better understand the disease, its pr…
Sponsor: University of Ulm • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC