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LIPIN1: Patients With LPIN1 Mutations Treated With Low Dose Hydroxychloroquine Sulfate

Sponsor
Imagine Institute (Other)
Overall Status
Not yet recruiting
CT.gov ID
NCT05564520
Collaborator
(none)
150
Enrollment
37.9
Anticipated Duration (Months)

Study Details

Study Description

Brief Summary

LIPIN1 is an international study based on data collected from Hydroxychloroquine Sulfate-treated patients' medical records under their doctors' responsibility. The aim of this investigation is to evaluate the efficiency of Hydroxychloroquine Sulfate in patients with Lipin1 deficiency.

Condition or Disease Intervention/Treatment Phase

    Detailed Description

    This study evaluates fatigability, pain, and quality of life before and after treatment with Hydroxychloroquine Sulfate.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    150 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Patients With LPIN1 Mutations Treated With Low Dose Hydroxychloroquine Sulfate
    Anticipated Study Start Date :
    Jan 1, 2023
    Anticipated Primary Completion Date :
    Mar 1, 2026
    Anticipated Study Completion Date :
    Mar 1, 2026

    Outcome Measures

    Primary Outcome Measures

    1. Change from the average between 3 months before the treatment and baseline fatigability questionnaire score at month 1, month 3, month 6, month 12, month 18 and month 24 [Month-3, Month0, Month1, Month3, Month6, Month12, Month18, Month24]

      Patient fatigability evaluated by a questionnaire

    Secondary Outcome Measures

    1. Pain questionnaire [Month-3, Month0, Month1, Month3, Month6, Month12, Month18, Month24]

      Patient pain evaluated by a questionnaire

    2. Quality of life evaluation [Month-3, Month0, Month1, Month3, Month6, Month12, Month18, Month24]

      questionnaire according to the patient's age

    3. effort test [Month-3, Month0, Month1, Month3, Month6, Month12, Month18, Month24]

      Patient effort evaluated by a test

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    12 Months and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    Patient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene) 2. Treatment with Hydroxychloroquine Sulfate (Plaquenil® cp 200 mg or soluble form for patients under 6 years of age for Necker's PUI) from 2.5 mg / kg / day to 3.5 mg / kg / day .

    Exclusion Criteria:

    1. Patients with retinopathy,

    2. Opposition of the patient or his parents to participate to the study

    Contacts and Locations

    Locations

    No locations specified.

    Sponsors and Collaborators

    • Imagine Institute

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Imagine Institute
    ClinicalTrials.gov Identifier:
    NCT05564520
    Other Study ID Numbers:
    • HJ-21-LIPIN1
    First Posted:
    Oct 3, 2022
    Last Update Posted:
    Oct 3, 2022
    Last Verified:
    Sep 1, 2022
    Keywords provided by Imagine Institute
    Inherited Metabolic Diseases
    enzymatic deficiency
    rhabdomyolysis

    Study Results

    No Results Posted as of Oct 3, 2022