International Multicenter Study on Lipin-1 Deficiency (LIPIN1)

February 28, 2024 updated by: Imagine Institute

Etude Multicentrique Internationale Sur le déficit en Lipin-1

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

Study Overview

Status

Recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Imagine Institute

Investigators

  • Principal Investigator: Pascale De Lonlay, Pr, Necker Hospital
  • Study Chair: Hortense De Calbiac, Ph.D., Institut Imagine
  • Study Chair: Caroline Tuchmann-Durand, Pharm D, Institut Imagine

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 24, 2023

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

September 27, 2022

First Submitted That Met QC Criteria

September 29, 2022

First Posted (Actual)

October 3, 2022

Study Record Updates

Last Update Posted (Estimated)

February 29, 2024

Last Update Submitted That Met QC Criteria

February 28, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • HJ-23-LIPIN1

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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