Lung DiseasesNCT00005531
Genetic Epidemiology of Sarcoidosis
An observational study of Lung Diseases and Sarcoidosis, run by National Heart, Lung, and Blood Institute (NHLBI).
Trial summary
To determine if hereditary susceptibility predisposes African Americans to sarcoidosis and to identify sarcoidosis susceptibility genes in African Americans. Read more about this study
- Who is it for?
- Ages Up to 100 years, men only
- Conditions the study is for
- Lung Diseases, Sarcoidosis
- How many people
- Not given
- Where
- No sites listed yet
- Study dates
- Dec 1996to Nov 2000
- 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 determine if hereditary susceptibility predisposes African Americans to sarcoidosis and to identify sarcoidosis susceptibility genes in African Americans.
Read the detailed description
BACKGROUND:
Sarcoidosis is a multisystem, granulomatous inflammatory disease of unknown etiology. Hereditary susceptibility to sarcoidosis is suggested by reports of familial clustering and a higher prevalence in certain ethnic groups, particularly African-Americans. Over four hundred kindreds been reported in the medical literature and these investigators have recently described 101 families and shown that African Americans have a higher prevalence rate of familial sarcoidosis than Caucasians (19 percent vs. 5 percent). The reasons why sarcoidosis clusters in families or the role of genetic factors in this disease are not known.
DESIGN NARRATIVE:
The study was carried out in African American families ascertained through 400 African American sarcoidosis patients evaluated at the Henry Ford Health System. They were tested for association of sarcoidosis with markers for candidate genes using the affected family-based control method and tested for possible environmental risk factors and genetic mechanisms of disease transmission by performing a segregation analysis in African American families.
A strong association of one or more of the candidate genes with sarcoidosis or an indication of major gene segregation for the disease, provided the basis for future linkage studies. Investigating the hereditary susceptibility of sarcoidosis was best done in African Americans, because of the greater severity and occurrence of disease in this population. Once the reasons for familial aggregation of sarcoidosis are determined, the etiology of this disease will be better understood and it should be possible to design new approaches to prevention and treatment.
The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) recor
- Conditions
- Lung Diseases, Sarcoidosis
- Medical subject headings
- Lung Diseases, Sarcoidosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2000 (estimated)
- Study startDec 1996
- Study completionNov 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (10)Papers the sponsor has linked to this study.
- Other trials for Lung DiseasesStudies 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
- Michael Iannuzzi, Case Western Reserve University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005531
- Sponsor's protocol ID
- 5064
- Other IDs
- R01HL054306
- Status last verified
- Aug 2004
- First submitted
- 25 May 2000
- Last updated
- 18 Feb 2016
- Results posted
- No
Publications
Rybicki BA, Maliarik MJ, Bock CH, Elston RC, Baughman RP, Kimani AP, Sheffer RG, Chen KM, Major M, Popovich J Jr, Iannuzzi MC. The Blau syndrome gene is not a major risk factor for sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 1999 Sep;16(2):203-8.
PubMed 10560124Rybicki BA, Maliarik MJ, Malvitz E, Sheffer RG, Major M, Popovich J Jr, Iannuzzi MC. The influence of T cell receptor and cytokine genes on sarcoidosis susceptibility in African Americans. Hum Immunol. 1999 Sep;60(9):867-74. doi: 10.1016/s0198-8859(99)00050-6.
PubMed 10527395Maliarik MJ, Rybicki BA, Malvitz E, Sheffer RG, Major M, Popovich J Jr, Iannuzzi MC. Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis. Am J Respir Crit Care Med. 1998 Nov;158(5 Pt 1):1566-70. doi: 10.1164/ajrccm.158.5.9804123.
PubMed 9817709Maliarik MJ, Chen KM, Sheffer RG, Rybicki BA, Major ML, Popovich J Jr, Iannuzzi MC. The natural resistance-associated macrophage protein gene in African Americans with sarcoidosis. Am J Respir Cell Mol Biol. 2000 Jun;22(6):672-5. doi: 10.1165/ajrcmb.22.6.3745.
PubMed 10837363Rybicki BA, Kirkey KL, Major M, Maliarik MJ, Popovich J Jr, Chase GA, Iannuzzi MC. Familial risk ratio of sarcoidosis in African-American sibs and parents. Am J Epidemiol. 2001 Jan 15;153(2):188-93. doi: 10.1093/aje/153.2.188.
PubMed 11159165Rybicki BA, Elston RC. The relationship between the sibling recurrence-risk ratio and genotype relative risk. Am J Hum Genet. 2000 Feb;66(2):593-604. doi: 10.1086/302778.
PubMed 10677319Rybicki BA, Maliarik MJ, Poisson LM, Sheffer R, Chen KM, Major M, Chase GA, Iannuzzi MC. The major histocompatibility complex gene region and sarcoidosis susceptibility in African Americans. Am J Respir Crit Care Med. 2003 Feb 1;167(3):444-9. doi: 10.1164/rccm.2112060.
PubMed 12554629Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, Sheffer R, Chen KM, Major M, Maliarik MJ, Iannuzzi MC. The distribution of long range admixture linkage disequilibrium in an African-American population. Hum Hered. 2002;53(4):187-96. doi: 10.1159/000066193.
PubMed 12435883Kucera GP, Rybicki BA, Kirkey KL, Coon SW, Major ML, Maliarik MJ, Iannuzzi MC. Occupational risk factors for sarcoidosis in African-American siblings. Chest. 2003 May;123(5):1527-35. doi: 10.1378/chest.123.5.1527.
PubMed 12740270Iannuzzi MC, Maliarik MJ, Poisson LM, Rybicki BA. Sarcoidosis susceptibility and resistance HLA-DQB1 alleles in African Americans. Am J Respir Crit Care Med. 2003 May 1;167(9):1225-31. doi: 10.1164/rccm.200209-1097OC. Epub 2003 Feb 13.
PubMed 12615619
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
- Genetic Epidemiology of Sarcoidosis
- ClinicalTrials.gov ID
- NCT00005531
- Acronym / sponsor ID
- 5064
- Conditions
- Lung Diseases, Sarcoidosis
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- Dec 1996
- Study completion
- Nov 2000 (actual)
- First posted
- 26 May 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 determine if hereditary susceptibility predisposes African Americans to sarcoidosis and to identify sarcoidosis susceptibility genes in African Americans.
Detailed description
BACKGROUND:
Sarcoidosis is a multisystem, granulomatous inflammatory disease of unknown etiology. Hereditary susceptibility to sarcoidosis is suggested by reports of familial clustering and a higher prevalence in certain ethnic groups, particularly African-Americans. Over four hundred kindreds been reported in the medical literature and these investigators have recently described 101 families and shown that African Americans have a higher prevalence rate of familial sarcoidosis than Caucasians (19 percent vs. 5 percent). The reasons why sarcoidosis clusters in families or the role of genetic factors in this disease are not known.
DESIGN NARRATIVE:
The study was carried out in African American families ascertained through 400 African American sarcoidosis patients evaluated at the Henry Ford Health System. They were tested for association of sarcoidosis with markers for candidate genes using the affected family-based control method and tested for possible environmental risk factors and genetic mechanisms of disease transmission by performing a segregation analysis in African American families.
A strong association of one or more of the candidate genes with sarcoidosis or an indication of major gene segregation for the disease, provided the basis for future linkage studies. Investigating the hereditary susceptibility of sarcoidosis was best done in African Americans, because of the greater severity and occurrence of disease in this population. Once the reasons for familial aggregation of sarcoidosis are determined, the etiology of this disease will be better understood and it should be possible to design new approaches to prevention and treatment.
The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) recor
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 10560124Rybicki BA, Maliarik MJ, Bock CH, Elston RC, Baughman RP, Kimani AP, Sheffer RG, Chen KM, Major M, Popovich J Jr, Iannuzzi MC. The Blau syndrome gene is not a major risk factor for sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 1999 Sep;16(2):203-8.
- Background: PubMed 10527395Rybicki BA, Maliarik MJ, Malvitz E, Sheffer RG, Major M, Popovich J Jr, Iannuzzi MC. The influence of T cell receptor and cytokine genes on sarcoidosis susceptibility in African Americans. Hum Immunol. 1999 Sep;60(9):867-74. doi: 10.1016/s0198-8859(99)00050-6.
- Background: PubMed 9817709Maliarik MJ, Rybicki BA, Malvitz E, Sheffer RG, Major M, Popovich J Jr, Iannuzzi MC. Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis. Am J Respir Crit Care Med. 1998 Nov;158(5 Pt 1):1566-70. doi: 10.1164/ajrccm.158.5.9804123.
- Background: PubMed 10837363Maliarik MJ, Chen KM, Sheffer RG, Rybicki BA, Major ML, Popovich J Jr, Iannuzzi MC. The natural resistance-associated macrophage protein gene in African Americans with sarcoidosis. Am J Respir Cell Mol Biol. 2000 Jun;22(6):672-5. doi: 10.1165/ajrcmb.22.6.3745.
- Background: PubMed 11159165Rybicki BA, Kirkey KL, Major M, Maliarik MJ, Popovich J Jr, Chase GA, Iannuzzi MC. Familial risk ratio of sarcoidosis in African-American sibs and parents. Am J Epidemiol. 2001 Jan 15;153(2):188-93. doi: 10.1093/aje/153.2.188.
- Background: PubMed 10677319Rybicki BA, Elston RC. The relationship between the sibling recurrence-risk ratio and genotype relative risk. Am J Hum Genet. 2000 Feb;66(2):593-604. doi: 10.1086/302778.
- Background: PubMed 12554629Rybicki BA, Maliarik MJ, Poisson LM, Sheffer R, Chen KM, Major M, Chase GA, Iannuzzi MC. The major histocompatibility complex gene region and sarcoidosis susceptibility in African Americans. Am J Respir Crit Care Med. 2003 Feb 1;167(3):444-9. doi: 10.1164/rccm.2112060.
- Background: PubMed 12435883Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, Sheffer R, Chen KM, Major M, Maliarik MJ, Iannuzzi MC. The distribution of long range admixture linkage disequilibrium in an African-American population. Hum Hered. 2002;53(4):187-96. doi: 10.1159/000066193.
- Background: PubMed 12740270Kucera GP, Rybicki BA, Kirkey KL, Coon SW, Major ML, Maliarik MJ, Iannuzzi MC. Occupational risk factors for sarcoidosis in African-American siblings. Chest. 2003 May;123(5):1527-35. doi: 10.1378/chest.123.5.1527.
- Background: PubMed 12615619Iannuzzi MC, Maliarik MJ, Poisson LM, Rybicki BA. Sarcoidosis susceptibility and resistance HLA-DQB1 alleles in African Americans. Am J Respir Crit Care Med. 2003 May 1;167(9):1225-31. doi: 10.1164/rccm.200209-1097OC. Epub 2003 Feb 13.
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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.
Michael Iannuzzi
Case Western Reserve University
Questions about this trial
What is this clinical trial studying?
An observational study of Lung Diseases and Sarcoidosis, 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 NCT00005531, which also lists 10 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.