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Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome

NCT ID: NCT02460328

Last Updated: 2016-03-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

43 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-02-28

Study Completion Date

2016-02-29

Brief Summary

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* Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
* Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

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Detailed Description

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22q11.2 Deletion Syndrome is the most common for microdeletion syndrome. The incidence is about 1:4000 of live birth. Clinical features in this syndrome are vary which consist of conotruncal cardiac anomalies, developmental disabilities, palatal anomalies, speech delay, hypocalcemia, characteristic facial features and immunodeficiencies. The most common type of immunodeficiencies is T cell defect that associated with thymic hypoplasia. In the present time, the investigators don't know about the resolution of immune defect in this syndrome.

Conditions

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Immune Defect 22q11.2 Deletion Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Eligibility Criteria

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Inclusion Criteria

* 22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic

Exclusion Criteria

* loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record
Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mahidol University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Punchama Pacharn, MD.

Role: PRINCIPAL_INVESTIGATOR

Mahidol University

Locations

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Siriraj Hospital

Bangkoknoi, Bangkok, Thailand

Site Status

Countries

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Thailand

References

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McLean-Tooke A, Barge D, Spickett GP, Gennery AR. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol. 2008 Aug;122(2):362-7, 367.e1-4. doi: 10.1016/j.jaci.2008.03.033. Epub 2008 May 16.

Reference Type BACKGROUND
PMID: 18485468 (View on PubMed)

Chinen J, Rosenblatt HM, Smith EO, Shearer WT, Noroski LM. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003 Mar;111(3):573-9. doi: 10.1067/mai.2003.165.

Reference Type RESULT
PMID: 12642839 (View on PubMed)

Other Identifiers

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794/2557(EC4)

Identifier Type: -

Identifier Source: org_study_id

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