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International Multicenter Study on Lipin-1 Deficiency

Recruiting
12 years of age
Both
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

29 January 2024

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