Resolution of Primary Immune Defect in 22q11.2 Deletion S... | NCT02460328

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

NCT02460328

Sponsor

Mahidol University

Status

Completed

Last Update Posted

Mar 23, 2016Estimated

Enrollment

43Actual

Phase

Not provided

Conditions

Immune Defect
22q11.2 Deletion Syndrome

Interventions

Not provided

Countries

Thailand

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2015

Primary Completion Date

Feb 2016Actual

Completion Date

Feb 2016Actual

First Submitted Date

Apr 10, 2015

First Submission Date that Met QC Criteria

May 28, 2015

First Posted Date

Jun 2, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 22, 2016

Last Update Posted Date

Mar 23, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

43Actual

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

15 Years

Standard Ages

Child

Study Population

22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Punchama Pacharn, MD.	Mahidol University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Siriraj Hospital		Bangkoknoi	Bangkok	10700	Thailand

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
18485468	Background	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.
12642839	Result	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.

ID	Term
D058165	22q11 Deletion Syndrome
D019465	Craniofacial Abnormalities
D009139	Musculoskeletal Abnormalities
D009140	Musculoskeletal Diseases