Familial partial lipodystrophy, Kobberling type
MONDO:0012072Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.
Also known as: FPLD1, familial partial lipodystrophy type 1, familial partial lipodystrophy type Köbberling, familial partial lipodystrophy, Köbberling type, lipodystrophy, familial partial, Kobberling type, lipodystrophy, familial partial, type 1
4 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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Scientists hunt for 'Modifier Genes' that could explain why some LMNA patients fare better than others
Knowledge-focused Recruiting nowThis study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…
Phase: NA • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 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