Ignite Creation Date:
2024-05-05 @ 11:44 AM
Last Modification Date:
2024-10-26 @ 9:12 AM
Study NCT ID:
NCT00113464
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2005-06-07
Brief Title:
Developing Newborn Screening for Infants With Primary Immunodeficiency
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Developing Newborn Screening for Infants With Primary Immunodeficiency
Status:
COMPLETED
Status Verified Date:
2007-04-13
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 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 childs age diagnosis and current medicines will be kept coded by diagnosis and a code number instead of the childs name
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 childs age diagnosis and current medicines will be kept coded by diagnosis and a code number instead of the childs 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 andor proteins expressed only in T cells
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 andor proteins expressed only in T cells
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-HG-0162 | None | None | None |