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IMMUNEREP: Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes

Sponsor
Assistance Publique - Hôpitaux de Paris (Other)
Overall Status
Unknown status
CT.gov ID
NCT02556359
Collaborator
(none)
100
Enrollment
1
Location
50
Duration (Months)
2
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The molecular mechanisms participating in the various aspects of the DNA Damage Response (DDR) are absolutely essential to maintain the genome dynamics essential to all living organisms. The most commonly studied consequence of faulty DDR is genome instability participating in cancer onset. In the present proposal, we wish to explore another aspect of DDR, not relevant to cancer, which is its absolute requirement at several key steps of the development, maturation, and function of the immune system.

The most "spectacular" consequences of faulty DNA repair processes with respect to the immuno-hematopoietic tissue are the complete block of B and T lymphocytes maturation owing to defective DNA joining phase during V(D)J recombination resulting in patients with Severe Combined Immune Deficiency (SCID).

The objectives of this study are to increase our knowledge on the role of the various DNA repair processes in the development, the maintenance, and the function of the immune system and thus, to better understand why and how dysfunctions of these DNA repair processes result in human severe conditions such as CVID, LOCID or other manifestations of immune disorders such as autoimmunity.

The explorations of DNA repair mechanisms in the patients will allow us to establish the genetic diagnosis in some patients with until now undefined molecular diagnosis. This is of immediate importance for the patients and their families, as it not only contributes to a better understanding of the patients' condition, but also allows providing genetic counseling for the families.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
    Study Start Date :
    Jul 1, 2015
    Anticipated Primary Completion Date :
    Jul 1, 2019
    Anticipated Study Completion Date :
    Sep 1, 2019

    Outcome Measures

    Primary Outcome Measures

    1. DNA abnormailities [1 day]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    • Immune Deficiency and early BMF in childhood

    • Common Variable Immunodeficiency (CVID)

    • Genetic patients

    Exclusion Criteria:
    • Refusal to consent.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Saint Louis hospital Paris France 75010

    Sponsors and Collaborators

    • Assistance Publique - Hôpitaux de Paris

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Assistance Publique - Hôpitaux de Paris
    ClinicalTrials.gov Identifier:
    NCT02556359
    Other Study ID Numbers:
    • RTC13005
    First Posted:
    Sep 22, 2015
    Last Update Posted:
    Apr 18, 2016
    Last Verified:
    Apr 1, 2016
    Additional relevant MeSH terms:
    Immunologic Deficiency Syndromes

    Study Results

    No Results Posted as of Apr 18, 2016