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Keppen-Lubinsky syndrome

MONDO:0013572

Also known as: Keppen-Lubinsky syndrome, generalised lipodystrophy-progeroid features-severe intellectual disability syndrome, generalized lipodystrophy-progeroid features-severe intellectual disability syndrome, KEPPEN-Lubinsky syndrome, KPLBS

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Skin disorder (132) Inborn errors of metabolism (45) Lipodystrophy (27) Human disease (14) Hereditary skin disorder (6) Disease of genetic or genomic mechanism (2) Hereditary lipodystrophy (2)

Trials to join now! 2 Completed 1

Rare fat disorder gene hunt: just 2 patients could unlock answers

Knowledge-focused Completed

This study looked for a new gene that causes hereditary lipodystrophy, a rare disease where people lose body fat and often develop diabetes and heart problems. Researchers studied DNA and cells from 2 patients who had the disease but no known genetic cause. The goal was to find t…

Phase: NA • Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:00 UTC