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