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

22q11.2 Deletion Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02460328
• Other study ID #: 794/2557(EC4)
• Status: Completed
• Phase: N/A
• First received: April 10, 2015
• Last updated: March 22, 2016
• Start date: February 2015
• Est. completion date: February 2016

Study information

• Verified date: March 2016
• Source: Mahidol University
• Contact: n/a
• Is FDA regulated: No
• Health authority: Thailand: Ethical Committee
• Study type: Observational

Clinical Trial Summary

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

• Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 43
• Est. completion date: February 2016
• Est. primary completion date: February 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 15 Years

Eligibility

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

Study Design

Observational Model: Case-Only

Related Conditions & MeSH terms

• 22q11.2 Deletion Syndrome
• DiGeorge Syndrome
• Immune Defect
• Syndrome

Locations

Country	Name	City	State
Thailand	Siriraj Hospital	Bangkoknoi	Bangkok

Sponsors (1)

Lead Sponsor	Collaborator
Mahidol University

Country where clinical trial is conducted

Thailand, 

References & Publications (2)

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	age of resolution in immune defect in 22q11.2 Deletion Syndrome		18 months	No
Secondary	incidence of immunodeficiencies in 22q11.2 Deletion Syndrome		18 months	No
Secondary	type of infectious disease in 22q11.2 Deletion Syndrome		18 months	No