NCT02460328

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
43

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Feb 2015

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2015

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

April 10, 2015

Completed
2 months until next milestone

First Posted

Study publicly available on registry

June 2, 2015

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2016

Completed
Last Updated

March 23, 2016

Status Verified

March 1, 2016

Enrollment Period

1 year

First QC Date

April 10, 2015

Last Update Submit

March 22, 2016

Conditions

Immune Defect22q11.2 Deletion Syndrome

Outcome Measures

Primary Outcomes (1)

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

    18 months

Secondary Outcomes (2)

  • incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

    18 months

  • type of infectious disease in 22q11.2 Deletion Syndrome

    18 months

Eligibility Criteria

AgeUp to 15 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic

You may not qualify if:

  • loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Siriraj Hospital

Bangkoknoi, Bangkok, 10700, Thailand

Location

Related Publications (2)

  • 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.

    PMID: 18485468BACKGROUND

  • 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.

    PMID: 12642839RESULT

MeSH Terms

Conditions

DiGeorge Syndrome

Condition Hierarchy (Ancestors)

22q11 Deletion SyndromeCraniofacial AbnormalitiesMusculoskeletal AbnormalitiesMusculoskeletal DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesLymphatic AbnormalitiesLymphatic DiseasesHemic and Lymphatic DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, InbornHypoparathyroidismParathyroid DiseasesEndocrine System Diseases

Study Officials

  • Punchama Pacharn, MD.

    Mahidol University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 10, 2015

First Posted

June 2, 2015

Study Start

February 1, 2015

Primary Completion

February 1, 2016

Study Completion

February 1, 2016

Last Updated

March 23, 2016

Record last verified: 2016-03

Locations

TH(1)