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Clinical Trials/NCT02460328
NCT02460328CompletedNot Applicable

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

Mahidol University1 site in 1 country43 target enrollmentStarted: February 2015Last updated:
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Conditions

Trial Snapshot

Phase
Not Applicable
Status
Completed
Enrollment
43
Locations
1
Primary Endpoint
age of resolution in immune defect in 22q11.2 Deletion Syndrome
Study OverviewStudy DesignEligibility CriteriaOutcomesInvestigatorsSitesRecords & IdentifiersSimilar Trials

Study Overview

Brief Summary

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

Detailed Description

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.

Study Design

Study Type
Observational
Observational Model
Case Only

Eligibility Criteria

Ages
— to 15 Years (Child)
Sex
All
Accepts Healthy Volunteers
No

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

Outcomes

Primary Outcomes

age of resolution in immune defect in 22q11.2 Deletion Syndrome

Time Frame: 18 months

Secondary Outcomes

  • incidence of immunodeficiencies in 22q11.2 Deletion Syndrome(18 months)
  • type of infectious disease in 22q11.2 Deletion Syndrome(18 months)

Investigators

Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (1)

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