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

• Sponsor: Mahidol University (Other)
• Overall Status: Completed
• CT.gov ID: NCT02460328
• Collaborator: (none)
• Enrollment: 43
• Location: 1
• Duration (Months): 12
• Patients Per Site Per Month: 3.6

Study Details

Study Description

Brief Summary

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

• Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

Condition or Disease	Intervention/Treatment	Phase
Immune Defect; 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
• Actual Enrollment: 43 participants
• Observational Model: Case-Only
• Official Title: Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
• Study Start Date: Feb 1, 2015
• Actual Primary Completion Date: Feb 1, 2016
• Actual Study Completion Date: Feb 1, 2016

Outcome Measures

Primary Outcome Measures

1. age of resolution in immune defect in 22q11.2 Deletion Syndrome [18 months]

Secondary Outcome Measures

1. incidence of immunodeficiencies in 22q11.2 Deletion Syndrome [18 months]

2. type of infectious disease in 22q11.2 Deletion Syndrome [18 months]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A to 15 Years
• Sexes Eligible for Study: 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Siriraj Hospital	Bangkoknoi	Bangkok	Thailand	10700

Sponsors and Collaborators

• Mahidol University

Investigators

• Principal Investigator: Punchama Pacharn, MD., Mahidol University

Study Documents (Full-Text)

None provided.

More Information

Publications

• 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.

• Responsible Party: Mahidol University
• ClinicalTrials.gov Identifier: NCT02460328
• Other Study ID Numbers: 794/2557(EC4)
• First Posted: Jun 2, 2015
• Last Update Posted: Mar 23, 2016
• Last Verified: Mar 1, 2016

• Additional relevant MeSH terms: DiGeorge Syndrome; Syndrome

Study Results

No Results Posted as of Mar 23, 2016