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

NCT ID NCT02056912

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

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 the missing gene and understand how it leads to fat loss.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Service de Génétique Médicale

    Bordeaux, 33076, France

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