International Multicenter Study on Lipin-1 Deficiency

Etude Multicentrique Internationale Sur le déficit en Lipin-1

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05564520

Acronym

LIPIN1

Enrollment

Registered

2022-10-03

Start date

2023-11-24

Completion date

2026-03-24

Last updated

2026-03-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Lipin-1 Deficiency

Keywords

Inherited Metabolic Diseases, enzymatic deficiency, rhabdomyolysis

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

12 Months to No maximum

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

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
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 quality of life of patients with Lipin-1 deficiency	According to routine care	Quality of life, assessed by standardized questionnaires
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
Evaluation the fatigability of patients with Lipin-1 deficiency	According to routine care	Exercise capacity, assessed by walking tests

Countries

France

Contacts

PRINCIPAL_INVESTIGATORPascale De Lonlay, Pr

Necker Hospital

STUDY_CHAIRHortense De Calbiac, Ph.D.

Institut Imagine

STUDY_CHAIRCaroline Tuchmann-Durand, Pharm D