NCT05564520

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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
12

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Nov 2023

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 27, 2022

Completed
6 days until next milestone

First Posted

Study publicly available on registry

October 3, 2022

Completed
1.1 years until next milestone

Study Start

First participant enrolled

November 24, 2023

Completed
2.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 24, 2026

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 24, 2026

Completed
Last Updated

March 27, 2026

Status Verified

March 1, 2026

Enrollment Period

2.3 years

First QC Date

September 27, 2022

Last Update Submit

March 24, 2026

Conditions

Lipin-1 Deficiency

Keywords

Inherited Metabolic Diseasesenzymatic deficiencyrhabdomyolysis

Outcome Measures

Primary Outcomes (1)

  • Evaluation of survival in patients with Lipin-1 deficiency

    Patient survival as assessed by long-term follow-up

    According to routine care

Secondary Outcomes (5)

  • Evaluation of cardiac function in patients with Lipin-1 deficiency

    According to routine care

  • Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency

    According to routine care

  • Evaluation of the quality of life of patients with Lipin-1 deficiency

    According to routine care

  • Evaluation of the tolerance of treatments in patients with Lipin-1 deficiency.

    According to routine care

  • Evaluation the fatigability of patients with Lipin-1 deficiency

    According to routine care

Eligibility Criteria

Age12 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene)

You may not qualify if:

  • Opposition of the patient or his parents to participate to the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Necker - Enfants Malades Hospital

Paris, 75015, France

Location

MeSH Terms

Conditions

Rhabdomyolysis

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal Diseases

Study Officials

  • Pascale De Lonlay, Pr

    Necker Hospital

    PRINCIPAL INVESTIGATOR

  • Hortense De Calbiac, Ph.D.

    Institut Imagine

    STUDY CHAIR

  • Caroline Tuchmann-Durand, Pharm D

    Institut Imagine

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 27, 2022

First Posted

October 3, 2022

Study Start

November 24, 2023

Primary Completion

March 24, 2026

Study Completion

March 24, 2026

Last Updated

March 27, 2026

Record last verified: 2026-03

Locations

FR(1)