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OpenTrials
Completed

NCT Number: NCT02460328

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

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

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Key information

Conditions

Immune Defect 22q11 Deletion Syndrome 22q11.2 Deletion Syndrome Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities DiGeorge Syndrome Endocrine System Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Hemic and Lymphatic Diseases Hypoparathyroidism Lymphatic Abnormalities Lymphatic Diseases Musculoskeletal Abnormalities Musculoskeletal Diseases Parathyroid Diseases

Age range

Up to 15 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Siriraj Hospital

Bangkoknoi, Bangkok, 10700, Thailand

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: 18 months

Secondary outcomes

  1. incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

    Time frame: 18 months

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

    Time frame: 18 months

Sponsors and collaborators

Lead sponsor

Mahidol University

Other

Registry information

Important dates

Study start
2015
Primary completion
2016
Study completion
2016
First posted
Jun 2, 2015
Registry last updated
Mar 23, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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