Congenital generalized lipodystrophy type 2
MONDO:0010020Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
Also known as: BSCL2 congenital generalised lipodystrophy (disease), BSCL2 congenital generalized lipodystrophy (disease), CGL2, congenital generalised lipodystrophy (disease) caused by mutation in BSCL2, congenital generalized lipodystrophy (disease) caused by mutation in BSCL2, BSCL2-related Brunzell syndrome, Berardinelli Seip congenital lipodystrophy type 2, Berardinelli syndrome
3 clinical trials for this condition and its sub-types.
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Rare leptin disorder patients gain access to experimental drug
Disease control AVAILABLEThis 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