AsthmaNCT00006511
Chromosome 5Q Gene Variants and Asthma-Related Traits
An observational study of Asthma and Lung Diseases, run by National Heart, Lung, and Blood Institute (NHLBI).
Trial summary
To identify gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma. Read more about this study
- Who is it for?
- Ages Up to 100 years, men only
- Conditions the study is for
- Asthma, Lung Diseases
- How many people
- Not given
- Where
- No sites listed yet
- Study dates
- Sep 2000to Aug 2005
- 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 100 years
- Men only
- No healthy volunteers
- Child, Adult, Older adult
No eligibility criteria
About this study
To identify gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma.
Read the detailed description
BACKGROUND:
Markers and genes in chromosomal region 5q31-33 have been shown to be linked or associated to asthma or components of the asthma phenotype, suggesting that this chromosomal region is important in the genetic susceptibility to asthma, yet it has been difficult to show that a specific gene in this region plays a major role in asthma development or progression. Some of this difficulty arises from the fact that many genes are likely to be involved in the pathogenesis of asthma, with no single gene having an effect that will emerge as a major contributor, as well as the fact that the strong influence of environmental factors will complicate the analyses. Having recognized these issues, the investigators will use components of the asthma-associated phenotype, including eosinophilia and a compound "atopy" phenotype, to identify relevant asthma-related genes in this region. The identification of the genes and their genetic variants that may be associated with asthma and its related phenotypes may provide important new information on the pathogenesis of asthma.
The study is in response to a Request for Applications on "Positional Candidate Approaches in Asthma Gene Discovery" released in October 1999.
DESIGN NARRATIVE:
Dr. Martinez and his group have found linkage between markers in chromosome 5q31 and both eosinophilia and a composite 'atopy' phenotype. The goal of the study is to identify the gene variants in 5q31-33 that are responsible for these two linkage signals. This will be done using the same population of families enrolled in the Tucson Children's Respiratory Study that have now been followed since the time of birth of the index child approximately 18 years ago. In the first specific aim, gene variants having a frequency of 2% or more in a group of 25 known genes in chromosome 5q will be identified. The 25 genes have been selected among those that have been mapped to the 28 cM interval that was tested for linkage in previous studies. The second specific aim is to perform linkage disequilibrium mapping using 100 known polymorphisms in the region of approximately 6.4 cM that shows the highest likelihood of containing the gene variants responsible for either or both of the eosinophilia and atopy linkage signals. Detailed local mapping using both published and newly discovered polymorphisms in and around the areas of positive signals will also be performed. Based on the previous experience of these investigators for the same chromosomal region, several association/linkage signals in chromosome 5q are expected to be found.
The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.
- Conditions
- Asthma, Lung Diseases
- Medical subject headings
- Asthma, Lung Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Nov 2000 (estimated)
- Study startSep 2000
- Study completionAug 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for AsthmaStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The 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
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Investigators
- Fernando Martinez, University of Arizona
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00006511
- Sponsor's protocol ID
- 947
- Other IDs
- R01HL066447
- Status last verified
- Jan 2006
- First submitted
- 20 Nov 2000
- Last updated
- 18 Feb 2016
- Results posted
- No
Publications
Martinez FD. Links between pediatric and adult asthma. J Allergy Clin Immunol. 2001 May;107(5 Suppl):S449-55. doi: 10.1067/mai.2001.114993.
PubMed 11344374Martinez FD. The coming-of-age of the hygiene hypothesis. Respir Res. 2001;2(3):129-32. doi: 10.1186/rr48. Epub 2001 Apr 2.
PubMed 11686875Patino CM, Martinez FD. Interactions between genes and environment in the development of asthma. Allergy. 2001 Apr;56(4):279-86. doi: 10.1034/j.1398-9995.2001.00135.x. No abstract available.
PubMed 11284793LeVan TD, Von Essen S, Romberger DJ, Lambert GP, Martinez FD, Vasquez MM, Merchant JA. Polymorphisms in the CD14 gene associated with pulmonary function in farmers. Am J Respir Crit Care Med. 2005 Apr 1;171(7):773-9. doi: 10.1164/rccm.200404-530OC. Epub 2004 Dec 10.
PubMed 15591473Martinez FD. Gene-environment interactions in asthma and allergies: a new paradigm to understand disease causation. Immunol Allergy Clin North Am. 2005 Nov;25(4):709-21. doi: 10.1016/j.iac.2005.09.001.
PubMed 16257634Graves PE, Siroux V, Guerra S, Klimecki WT, Martinez FD. Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33. J Allergy Clin Immunol. 2005 Sep;116(3):650-6. doi: 10.1016/j.jaci.2005.05.004.
PubMed 16159638
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Chromosome 5Q Gene Variants and Asthma-Related Traits
- ClinicalTrials.gov ID
- NCT00006511
- Acronym / sponsor ID
- 947
- Conditions
- Asthma, Lung Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Sep 2000
- Study completion
- Aug 2005 (actual)
- First posted
- 21 Nov 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.
To identify gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma.
Detailed description
BACKGROUND:
Markers and genes in chromosomal region 5q31-33 have been shown to be linked or associated to asthma or components of the asthma phenotype, suggesting that this chromosomal region is important in the genetic susceptibility to asthma, yet it has been difficult to show that a specific gene in this region plays a major role in asthma development or progression. Some of this difficulty arises from the fact that many genes are likely to be involved in the pathogenesis of asthma, with no single gene having an effect that will emerge as a major contributor, as well as the fact that the strong influence of environmental factors will complicate the analyses. Having recognized these issues, the investigators will use components of the asthma-associated phenotype, including eosinophilia and a compound "atopy" phenotype, to identify relevant asthma-related genes in this region. The identification of the genes and their genetic variants that may be associated with asthma and its related phenotypes may provide important new information on the pathogenesis of asthma.
The study is in response to a Request for Applications on "Positional Candidate Approaches in Asthma Gene Discovery" released in October 1999.
DESIGN NARRATIVE:
Dr. Martinez and his group have found linkage between markers in chromosome 5q31 and both eosinophilia and a composite 'atopy' phenotype. The goal of the study is to identify the gene variants in 5q31-33 that are responsible for these two linkage signals. This will be done using the same population of families enrolled in the Tucson Children's Respiratory Study that have now been followed since the time of birth of the index child approximately 18 years ago. In the first specific aim, gene variants having a frequency of 2% or more in a group of 25 known genes in chromosome 5q will be identified. The 25 genes have been selected among those that have been mapped to the 28 cM interval that was tested for linkage in previous studies. The second specific aim is to perform linkage disequilibrium mapping using 100 known polymorphisms in the region of approximately 6.4 cM that shows the highest likelihood of containing the gene variants responsible for either or both of the eosinophilia and atopy linkage signals. Detailed local mapping using both published and newly discovered polymorphisms in and around the areas of positive signals will also be performed. Based on the previous experience of these investigators for the same chromosomal region, several association/linkage signals in chromosome 5q are expected to be found.
The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.
Study design
Who may qualify
- Ages
- Up to 100 years
- Sex
- Male only
- 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
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 18 Feb 2016.
- Background: PubMed 11344374Martinez FD. Links between pediatric and adult asthma. J Allergy Clin Immunol. 2001 May;107(5 Suppl):S449-55. doi: 10.1067/mai.2001.114993.
- Background: PubMed 11686875Martinez FD. The coming-of-age of the hygiene hypothesis. Respir Res. 2001;2(3):129-32. doi: 10.1186/rr48. Epub 2001 Apr 2.
- Background: PubMed 11284793Patino CM, Martinez FD. Interactions between genes and environment in the development of asthma. Allergy. 2001 Apr;56(4):279-86. doi: 10.1034/j.1398-9995.2001.00135.x. No abstract available.
- Background: PubMed 15591473LeVan TD, Von Essen S, Romberger DJ, Lambert GP, Martinez FD, Vasquez MM, Merchant JA. Polymorphisms in the CD14 gene associated with pulmonary function in farmers. Am J Respir Crit Care Med. 2005 Apr 1;171(7):773-9. doi: 10.1164/rccm.200404-530OC. Epub 2004 Dec 10.
- Background: PubMed 16257634Martinez FD. Gene-environment interactions in asthma and allergies: a new paradigm to understand disease causation. Immunol Allergy Clin North Am. 2005 Nov;25(4):709-21. doi: 10.1016/j.iac.2005.09.001.
- Background: PubMed 16159638Graves PE, Siroux V, Guerra S, Klimecki WT, Martinez FD. Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33. J Allergy Clin Immunol. 2005 Sep;116(3):650-6. doi: 10.1016/j.jaci.2005.05.004.
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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.
Fernando Martinez
University of Arizona
Questions about this trial
What is this clinical trial studying?
An observational study of Asthma and Lung Diseases, run by National Heart, Lung, and Blood Institute (NHLBI).
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: finished, as of the sponsor's last update on 18 Feb 2016. Status can change between updates, so confirm with the study contact before making plans.
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 NCT00006511, which also lists 6 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 18 Feb 2016.