Clincosm LogoSign in Get a demo

Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency

Sponsor
University Hospital, Montpellier (Other)
Overall Status
Completed
CT.gov ID
NCT05040256
Collaborator
(none)
20
Enrollment
1
Location
7.9
Actual Duration (Months)
2.5
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    20 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Retrospective
    Official Title:
    Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
    Actual Study Start Date :
    Feb 1, 2021
    Actual Primary Completion Date :
    Aug 1, 2021
    Actual Study Completion Date :
    Sep 30, 2021

    Outcome Measures

    Primary Outcome Measures

    1. Number of Neurologic impairment [1 day]

      Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology

    Secondary Outcome Measures

    1. Presence of reccurent infections [1 day]

      Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    12 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion criteria:
    • Patients diagnosed with CTLA4 or LRBA mutation
    Exclusion criteria:
    • Age < 12 years

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Uhmontpellier Montpellier France 34295

    Sponsors and Collaborators

    • University Hospital, Montpellier

    Investigators

    • Study Director: Xavier Ayrignac, MD, University Hospital, Montpellier

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    University Hospital, Montpellier
    ClinicalTrials.gov Identifier:
    NCT05040256
    Other Study ID Numbers:
    • RECHMPL21_0290
    First Posted:
    Sep 10, 2021
    Last Update Posted:
    Nov 15, 2021
    Last Verified:
    Nov 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by University Hospital, Montpellier
    LRBA deficiency
    Primary immunodeficiency
    Neuroinflammation
    Genetic diseases
    Autoimmune diseases

    Study Results

    No Results Posted as of Nov 15, 2021