Immune Deficiency and Early BMF in Childhood Clinical Trial
— IMMUNEREPOfficial title:
Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
| Verified date | April 2016 |
| Source | Assistance Publique - Hôpitaux de Paris |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | France: Ministry of Health |
| Study type | Observational |
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.
| Status | Recruiting |
| Enrollment | 100 |
| Est. completion date | September 2019 |
| Est. primary completion date | July 2019 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | N/A and older |
| Eligibility |
Inclusion Criteria: - Immune Deficiency and early BMF in childhood - Common Variable Immunodeficiency (CVID) - Genetic patients Exclusion Criteria: - Refusal to consent. |
Observational Model: Case-Only, Time Perspective: Prospective
| Country | Name | City | State |
|---|---|---|---|
| France | Saint Louis hospital | Paris |
| Lead Sponsor | Collaborator |
|---|---|
| Assistance Publique - Hôpitaux de Paris |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | DNA abnormailities | 1 day | No |