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International Multicenter Study on Lipin-1 Deficiency

International Multicenter Study on Lipin-1 Deficiency

Recruiting
12 years and older
All
Phase N/A
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Overview

LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.

Description

This study evaluates survival, cardiac function, quality of life, fatigability, treatment tolerance and comparison of the efficacy of different current treatments in patients with Lipin-1 deficiency.

Eligibility

Inclusion Criteria:

Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene)

Exclusion Criteria:

Opposition of the patient or his parents to participate to the study

Study details
    Lipin-1 Deficiency

NCT05564520

Imagine Institute

15 May 2025

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