International Multicenter Study on Lipin-1 Deficiency (LIPIN1)

Imagine Institute

Status: Enrolling

Conditions: Lipin-1 Deficiency

Study type: Observational

Funder types: Other

Identifiers

NCT05564520

HJ-23-LIPIN1

Details and patient eligibility

About

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

Full 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.

Enrollment: 150 estimated patients

Sex: All

Ages: 12+ months old

Volunteers: No Healthy Volunteers

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