DiGeorge SyndromeNCT00005102
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
An observational study of DiGeorge Syndrome and Shprintzen Syndrome, run by National Center for Research Resources (NCRR) at 1 site in United States.
Trial summary
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities
- How many people
- 11 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 1995to not given
- 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 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
- Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Kathleen E. Sullivan, 215-590-1697
About this study
OBJECTIVES:
- Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.
II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.
III. Determine presence of sustained immunologic compromise in older patients.
Read the detailed description
PROTOCOL OUTLINE:
Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.
At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.
Over 1 year of age, all studies are performed if the patient is seen for a single visit.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
- Keywords
- DiGeorge syndrome, Shprintzen syndrome, cardiovascular and respiratory diseases, conotruncal cardiac defects, genetic diseases and dysmorphic syndromes, rare disease
- Medical subject headings
- DiGeorge Syndrome, Chromosome Aberrations, Abnormalities, Multiple, Conotruncal cardiac defects, Respiratory Tract Diseases, Genetic Diseases, Inborn, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Apr 2000 (estimated)
- Study startJan 1995
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DiGeorge SyndromeStudies of the same condition, open and under way.
- 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
- Natural history
- Enrolment
- 11 participants
Sponsor and investigators
- Lead sponsor
- National Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Children's Hospital of Philadelphia
- Investigators
- Kathleen E. Sullivan, Study chair, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005102
- Sponsor's protocol ID
- NCRR-M01RR00240-1571
- Other IDs
- CHP-IRB-95-903, CHP-GCRC-1571
- Status last verified
- Dec 2003
- First submitted
- 6 Apr 2000
- Last updated
- 24 Jun 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
- ClinicalTrials.gov ID
- NCT00005102
- Acronym / sponsor ID
- NCRR-M01RR00240-1571
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
- Keywords
- DiGeorge syndrome, Shprintzen syndrome, cardiovascular and respiratory diseases, conotruncal cardiac defects, genetic diseases and dysmorphic syndromes, rare disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 11 participants
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- Children's Hospital of Philadelphia
- Study start
- Jan 1995
- First posted
- 7 Apr 2000 (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.
OBJECTIVES:
- Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.
II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.
III. Determine presence of sustained immunologic compromise in older patients.
Detailed description
PROTOCOL OUTLINE:
Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.
At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.
Over 1 year of age, all studies are performed if the patient is seen for a single visit.
Study design
- Observational model
- Natural history
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
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
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2005.
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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.
Kathleen E. Sullivan study chair
Children's Hospital of Philadelphia
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 DiGeorge Syndrome and Shprintzen Syndrome, run by National Center for Research Resources (NCRR) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
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: status not confirmed, as of the sponsor's last update on 24 Jun 2005. 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 United States. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
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 24 Jun 2005.