Rare disease registry aims to shed light on Lipin-1 deficiency

NCT ID NCT05564520

First seen Apr 01, 2026 · Last updated Jun 10, 2026 · Updated 9 times

Summary

This study is a registry that collects information on people with Lipin-1 deficiency, a rare genetic condition. It does not test any new treatments. The goal is to track patients' health over time, including survival and heart function, and to compare how different current treatments work. The study enrolled 12 patients aged 12 months or older with confirmed Lipin-1 deficiency.

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Contacts and locations

Locations

  • Necker - Enfants Malades Hospital

    Paris, 75015, France

Conditions

Explore the condition pages connected to this study.