Immune System DiseasesNCT00113464
Developing Newborn Screening for Infants With Primary Immunodeficiency
An observational study of Immune System Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will explore screening for immunodeficiency diseases (diseases that cause problems in fighting infections). There is no method at present to screen all babies at birth for immunodeficiency. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Immune System Diseases
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Jun 2005to 13 Apr 2007
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patient who has not yet received a BMT and who has defined PI or undefined PI with T cell lymphopenia.
Who cannot join
- None.
Trial locations and contacts
1 site in 1 country.
About this study
This study will explore screening for immunodeficiency diseases (diseases that cause problems in fighting infections). There is no method at present to screen all babies at birth for immunodeficiency. However, babies with low numbers of T-cells-an important type of immune system cell-may be found by studying T-cell products called TRECs (T-cell receptor excision circles). This study will:
- Collect samples from children with several different immunodeficiencies to find out which disorders can be found by screening dried blood spots for TRECs.
- Try to develop screening tests based on other kinds of material derived from dried blood spots.
Read more
Children with primary immunodeficiency and low numbers of T cells who have not had a bone marrow transplant may be eligible for this study.
Participating children donate up to 5 ml (1 teaspoon) of blood. The sample may be collected when the child is having other blood tests. The liquid blood is analyzed to determine the number of T cells, and the rest of the blood is used to make dried blood spots on filter paper. The blood spots are used to develop screening tests for immunodeficiency. The blood spots and data about the child's age, diagnosis, and current medicines will be kept coded by diagnosis and a code number instead of the child's name.
Read the detailed description
Study Objective: T cell receptor excision circles (TRECs) are episomal DNA circles excised from the T cell receptor genes during T cell maturation in the thymus. They do not replicate, so they are diluted out as T cells proliferate. Our objectives are to examine the levels of TRECs in blood samples from patients with primary immunodeficiency (PI) diseases; to determine which PI diseases might be detected by testing newborn dried blood spots for low numbers of TRECs; and to use the blood spots collected for future confirmatory or alternative tests to develop newborn screening for PIs.
Population: Patients diagnosed with defined primary T cell immunodeficiency diseases or undefined conditions with very low T cell numbers. There are several known, and additional unknown, gene defects that impair T lymphocyte maturation and function. The frequency of these rare disorders is unknown, but could potentially be learned in the course of population-based newborn screening.
Design: We will contact our network of immunology colleagues to help us identify and enroll patients already diagnosed with PI disorders. These patients will have had HIV ruled out as part of their immune evaluation. We will provide mail-in kits and will receive blood samples for analysis. We will attempt to retrieve the actual Guthrie cards containing the dried blood spots of these patients from their state screening laboratories to determine the number of TRECs that were present at birth in infants with these conditions.
Outcome Measures: We will measure TRECs in dried blood spots, and correlate TREC number with diagnosis and clinical and laboratory data. We hope to determine the range of immunodeficiency diseases that can be demonstrated to have significantly reduced TRECs as compared to healthy subjects using our assay. Because TREC testing may be insufficiently sensitive or specific as a stand-alone test, further tests may be developed and performed on the samples in the future, including DNA re-sequencing, detection of mRNA for T cell specific genes and/or proteins expressed only in T cells.
- Conditions
- Immune System Diseases
- Keywords
- SCID (Severe Combined Immunodeficiency), TREC (T cell Receptor Excision Circle), Bone Marrow Transplant, Dried Blood Spots, Early Detection, T Cell Immunodeficiency Diseases, Immunodeficiency Diseases, Primary Immunodeficiency, T Cell Immunodeficiency Disease, Severe Combined Immunodeficiency, SCID
- Medical subject headings
- Immune System Diseases, X-Linked Combined Immunodeficiency Diseases, Primary Immunodeficiency Diseases, Severe Combined Immunodeficiency
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jun 2005 (estimated)
- Study start2 Jun 2005
- Study completion13 Apr 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Immune System DiseasesStudies 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
- Enrolment
- 100 participants
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00113464
- Sponsor's protocol ID
- 050162
- Other IDs
- 05-HG-0162
- Status last verified
- 13 Apr 2007
- First submitted
- 7 Jun 2005
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981 Jul;6(1):1-6.
PubMed 6973633
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Developing Newborn Screening for Infants With Primary Immunodeficiency
- ClinicalTrials.gov ID
- NCT00113464
- Acronym / sponsor ID
- 050162
- Conditions
- Immune System Diseases
- Keywords
- SCID (Severe Combined Immunodeficiency), TREC (T cell Receptor Excision Circle), Bone Marrow Transplant, Dried Blood Spots, Early Detection, T Cell Immunodeficiency Diseases, Immunodeficiency Diseases, Primary Immunodeficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 2 Jun 2005
- Study completion
- 13 Apr 2007
- First posted
- 8 Jun 2005 (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.
This study will explore screening for immunodeficiency diseases (diseases that cause problems in fighting infections). There is no method at present to screen all babies at birth for immunodeficiency. However, babies with low numbers of T-cells-an important type of immune system cell-may be found by studying T-cell products called TRECs (T-cell receptor excision circles). This study will:
- Collect samples from children with several different immunodeficiencies to find out which disorders can be found by screening dried blood spots for TRECs.
- Try to develop screening tests based on other kinds of material derived from dried blood spots.
Children with primary immunodeficiency and low numbers of T cells who have not had a bone marrow transplant may be eligible for this study.
Participating children donate up to 5 ml (1 teaspoon) of blood. The sample may be collected when the child is having other blood tests. The liquid blood is analyzed to determine the number of T cells, and the rest of the blood is used to make dried blood spots on filter paper. The blood spots are used to develop screening tests for immunodeficiency. The blood spots and data about the child's age, diagnosis, and current medicines will be kept coded by diagnosis and a code number instead of the child's name.
Detailed description
Study Objective: T cell receptor excision circles (TRECs) are episomal DNA circles excised from the T cell receptor genes during T cell maturation in the thymus. They do not replicate, so they are diluted out as T cells proliferate. Our objectives are to examine the levels of TRECs in blood samples from patients with primary immunodeficiency (PI) diseases; to determine which PI diseases might be detected by testing newborn dried blood spots for low numbers of TRECs; and to use the blood spots collected for future confirmatory or alternative tests to develop newborn screening for PIs.
Population: Patients diagnosed with defined primary T cell immunodeficiency diseases or undefined conditions with very low T cell numbers. There are several known, and additional unknown, gene defects that impair T lymphocyte maturation and function. The frequency of these rare disorders is unknown, but could potentially be learned in the course of population-based newborn screening.
Design: We will contact our network of immunology colleagues to help us identify and enroll patients already diagnosed with PI disorders. These patients will have had HIV ruled out as part of their immune evaluation. We will provide mail-in kits and will receive blood samples for analysis. We will attempt to retrieve the actual Guthrie cards containing the dried blood spots of these patients from their state screening laboratories to determine the number of TRECs that were present at birth in infants with these conditions.
Outcome Measures: We will measure TRECs in dried blood spots, and correlate TREC number with diagnosis and clinical and laboratory data. We hope to determine the range of immunodeficiency diseases that can be demonstrated to have significantly reduced TRECs as compared to healthy subjects using our assay. Because TREC testing may be insufficiently sensitive or specific as a stand-alone test, further tests may be developed and performed on the samples in the future, including DNA re-sequencing, detection of mRNA for T cell specific genes and/or proteins expressed only in T cells.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patient who has not yet received a BMT and who has defined PI or undefined PI with T cell lymphopenia.
Key exclusion criteria (1 listed)
- None.
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
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 2 Jul 2017.
- Background: PubMed 6973633Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981 Jul;6(1):1-6.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 System Diseases, run by National Human Genome Research Institute (NHGRI) 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?
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 2 Jul 2017. 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?
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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00113464, which also lists 1 linked publication.
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 2 Jul 2017.