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

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ClinicalTrials.gov Identifier: NCT02460328
Recruitment Status : Completed
First Posted : June 2, 2015
Last Update Posted : March 23, 2016
Sponsor:
Information provided by (Responsible Party):
Mahidol University

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
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.

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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 : February 2015
Actual Primary Completion Date : February 2016
Actual Study Completion Date : February 2016





Primary Outcome Measures :
  1. age of resolution in immune defect in 22q11.2 Deletion Syndrome [ Time Frame: 18 months ]

Secondary Outcome Measures :
  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 ]


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Ages Eligible for Study:   up to 15 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02460328


Locations
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Thailand
Siriraj Hospital
Bangkoknoi, Bangkok, Thailand, 10700
Sponsors and Collaborators
Mahidol University
Investigators
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Principal Investigator: Punchama Pacharn, MD. Mahidol University

Publications of Results:
Other Publications:
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Responsible Party: Mahidol University
ClinicalTrials.gov Identifier: NCT02460328     History of Changes
Other Study ID Numbers: 794/2557(EC4)
First Posted: June 2, 2015    Key Record Dates
Last Update Posted: March 23, 2016
Last Verified: March 2016
Additional relevant MeSH terms:
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DiGeorge Syndrome
Craniosynostoses
Marfan Syndrome
Arachnodactyly
Syndrome
Disease
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases
Synostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Connective Tissue Diseases
Limb Deformities, Congenital