Familial partial lipodystrophy, Dunnigan type
MONDO:0007906Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
Also known as: Dunnigan syndrome, FPLD2, familial partial lipodystrophy type 2, FPL2, lipodystrophy, familial partial, Dunnigan type, lipodystrophy, familial partial, type 2, lipodystrophy, familial, of limbs and Lower trunk, lipodystrophy, reverse partial
7 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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PCOS study hunts for genetic clues behind severe insulin resistance
Knowledge-focused Recruiting nowThis study aims to find out whether some women diagnosed with polycystic ovary syndrome (PCOS) actually have a rare genetic condition causing severe insulin resistance. Researchers will compare 25 women with a known LMNA gene mutation (linked to lipodystrophy) to 50 women with cl…
Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Aug 12, 2026 00:00 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