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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02556359
Recruitment Status : Unknown
Verified April 2016 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was:  Recruiting
First Posted : September 22, 2015
Last Update Posted : April 18, 2016
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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
Immune Deficiency and Early BMF in Childhood

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Study Type : Observational
Estimated 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 : July 2015
Estimated Primary Completion Date : July 2019
Estimated Study Completion Date : September 2019

Primary Outcome Measures :
  1. DNA abnormailities [ Time Frame: 1 day ]

Biospecimen Retention:   Samples With DNA

Blood samples will be obtained as a source of DNA and viable lymphocytes for functional studies. Blood will be sent to the laboratory of Dr JP de Villartay, INSERM UMR1163, Genome Dynamics in the Immune System, Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 24 boulevard du Montparnasse, 75015 PARIS. Functional studies will be performed immediately.

A portion of the blood sample taken as part of the research will be included in a biological collection: B-EBV cell lines will be derived from patients and their parents. EBV-B cell lines will be established by Centre de Ressource Biologique (CRB, Hôpital Necker - Enfants Malades, Bâtiment IMAGINE 1er étage, 149, rue de Sèvres - 75 743 PARIS CEDEX 15, under the supervision of Dr Marie-Alexandra Alyanakian & Anne Esling & Christine Gouarin). Skin biopsies will be obtained from patients to derive fibroblast lines at CRB.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Any patient presenting clinical immune deficiency and at least one associated feature hinting at a possible DNA repair defect, such as microcephaly, growth retardation starting in utero, distinctive facial appearance ("bird-like face"), developmental delay, cerebellar degeneration, UV light sensitivity, premature aging, dystrophic nails, dental abnormalities, hair anomalies, pancytopenia and/or bone marrow failure

Inclusion Criteria:

  • Immune Deficiency and early BMF in childhood
  • Common Variable Immunodeficiency (CVID)
  • Genetic patients

Exclusion Criteria:

  • Refusal to consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02556359

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Saint Louis hospital Recruiting
Paris, France, 75010
Contact: Claire Fieschi, MD PhD    +33 1 42 49 45 83   
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT02556359    
Other Study ID Numbers: RTC13005
First Posted: September 22, 2015    Key Record Dates
Last Update Posted: April 18, 2016
Last Verified: April 2016
Additional relevant MeSH terms:
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Immunologic Deficiency Syndromes
Immune System Diseases