Immune DefectNCT02460328
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
An observational study of Immune Defect and 22q11.2 Deletion Syndrome, run by Mahidol University at 1 site in Thailand.
Trial summary
Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome Read more about this study
- Who is it for?
- Ages Up to 15 years
- Conditions the study is for
- Immune Defect, 22q11.2 Deletion Syndrome
- How many people
- 43 participants
- Where
- 1 siteThailand
- Study dates
- Feb 2015to Feb 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: 22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11
Who may be able to join
- 22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic
Who cannot join
- loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record
Trial locations and contacts
1 site in 1 country.
About this study
- Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
- Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
Read the 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.
- Conditions
- Immune Defect, 22q11.2 Deletion Syndrome
- Medical subject headings
- DiGeorge Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
age of resolution in immune defect in 22q11.2 Deletion Syndrome
Measured: 18 months
Secondary outcomes (2)
incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
Measured: 18 months
type of infectious disease in 22q11.2 Deletion Syndrome
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2015 (estimated)
- Study startFeb 2015
- Primary completionFeb 2016
- Study completionFeb 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Immune DefectStudies of the same condition, open and under way.
- More trials run by Mahidol UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Enrolment
- 43 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mahidol University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Punchama Pacharn, MD., Principal investigator, Mahidol University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02460328
- Sponsor's protocol ID
- 794/2557(EC4)
- Status last verified
- Mar 2016
- First submitted
- 10 Apr 2015
- Last updated
- 23 Mar 2016
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 18485468Chinen 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.
PubMed 12642839
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
- ClinicalTrials.gov ID
- NCT02460328
- Acronym / sponsor ID
- 794/2557(EC4)
- Conditions
- Immune Defect, 22q11.2 Deletion Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 43 participants (actual)
- Lead sponsor
- Mahidol UniversityUniversity, hospital or other
- Study start
- Feb 2015
- Primary completion
- Feb 2016 (actual)
- Study completion
- Feb 2016 (actual)
- First posted
- 2 Jun 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
- 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.
Study design
- Observational model
- Case only
Who may qualify
- Ages
- Up to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11
Key inclusion criteria (1 listed)
- 22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic
Key exclusion criteria (1 listed)
- loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
age of resolution in immune defect in 22q11.2 Deletion Syndrome
Time frame: 18 months
2 secondary outcomes
incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
Time frame: 18 months
type of infectious disease in 22q11.2 Deletion Syndrome
Time frame: 18 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2016.
- Background: PubMed 18485468McLean-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.
- Results publication: PubMed 12642839Chinen 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.
Related trials for Immune Defect
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 3
An Efficacy and Safety Study of Cenegermin Ophthalmic Solution Compared With Vehicle in the Treatment of PCED
Persistent Corneal Epithelial Defect
RecruitingObservational study
Evaluating the Relationship Between Skin Color and Pulse Oximeter Accuracy in Children
Pediatric ALL, Cardiac Defect
RecruitingObservational study
Impaired Type I IFN Immunity Due to Autoantibodies or a Genetic Defect: a Prospective National Cohort
Immunology, Allergy
RecruitingObservational study
Study of Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Punchama Pacharn, MD. principal investigator
Mahidol University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Immune Defect and 22q11.2 Deletion Syndrome, run by Mahidol University at 1 site in Thailand.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Mar 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Thailand. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
age of resolution in immune defect in 22q11.2 Deletion Syndrome (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02460328, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Mar 2016.