International Multicenter Study on Lipin-1 Deficiency

Recruiting

• Conditions: Lipin-1 Deficiency

• Registration Number: NCT05564520
• Lead Sponsor: Imagine Institute

Brief Summary

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

Detailed 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.

Study Timeline

• Study First Submitted: 2022-09-27
• Study First Submitted QC: 2022-09-29
• Study First Posted: 2022-10-03
• Study Start: 2023-11-24
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-29
• Last Update Posted: 2025-05-02
• Primary Completion: 2026-12-31
• Study Completion: 2026-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Evaluation of survival in patients with Lipin-1 deficiency	According to routine care	Patient survival as assessed by long-term follow-up

Secondary Outcome Measures

Name	Time	Method
Evaluation the fatigability of patients with Lipin-1 deficiency	According to routine care	Exercise capacity, assessed by walking tests
Evaluation of the quality of life of patients with Lipin-1 deficiency	According to routine care	Quality of life, assessed by standardized questionnaires
Evaluation of cardiac function in patients with Lipin-1 deficiency	According to routine care	Cardiac function, assessed by cardiographic ultrasound
Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency	According to routine care	Comparison of the number of severe rhabdomyolysis and biological assessment (CPK measurement performed as part of care) in patients
Evaluation of the tolerance of treatments in patients with Lipin-1 deficiency.	According to routine care	Treatment side effects, assessed by abdominal pain, skin allergy and other adverse effects

Trial Locations

Locations (1)

Necker - Enfants Malades Hospital; 🇫🇷 Paris, France