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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02460328

Enrollment

Registered

2015-06-02

Start date

2015-02-28

Completion date

2016-02-29

Last updated

2016-03-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q11.2 Deletion Syndrome, Immune Defect

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Eligibility

Sex/Gender

ALL

Age

No minimum to 15 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
age of resolution in immune defect in 22q11.2 Deletion Syndrome	18 months

Secondary

Measure	Time frame
incidence of immunodeficiencies in 22q11.2 Deletion Syndrome	18 months
type of infectious disease in 22q11.2 Deletion Syndrome	18 months

Countries

Thailand

Outcome results