Alpha 1-Antitrypsin DeficiencyNCT00499941
Alpha-1 Foundation Research Registry
An observational study of Alpha 1-Antitrypsin Deficiency, run by Medical University of South Carolina at 1 site in United States.
Trial summary
The Alpha-1 Foundation Research Registry is a confidential database made up of individuals diagnosed with severe alpha-1 antitrypsin deficiency (Alpha-1) or the carrier state. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Alpha 1-Antitrypsin Deficiency
- How many people
- 6,655 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2000to Jan 2021
- How long will I take part?
- 20 Years
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state
Who may be able to join
- Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine
Charleston, South Carolina, 29425
About this study
The Alpha-1 Foundation Research Registry is a confidential database made up of individuals diagnosed with severe alpha-1 antitrypsin deficiency (Alpha-1) or the carrier state.
Read the detailed description
The Registry was established in 1997 by the Alpha-1 Foundation to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1. Located at the Medical University of South Carolina (MUSC) in Charleston, the Registry employs procedures that ensure the most stringent confidentiality of participants. The Registry operates under the direction of the Alpha-1 Foundation Board of Directors and is guided by an Advisory Committee comprised of leaders in the medical, ethical, scientific and Alpha communities. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches in addition to other research opportunities.
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Keywords
- Alpha 1-Antitrypsin Deficiency
- Medical subject headings
- alpha 1-Antitrypsin Deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
To study the natural history of PiZZ, PiSZ, and PiMZ alpha-1 antitrypsin deficiency
Measured: Not limited
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jul 2007 (estimated)
- Study startApr 2000
- Primary completionJan 2021
- Study completionJan 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Alpha 1-Antitrypsin DeficiencyStudies 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
- Other
- Time perspective
- Other
- Enrolment
- 6,655 participants (actual)
- Target duration
- 20 Years
Sponsor and investigators
- Lead sponsor
- Medical University of South Carolina
- Sponsor type
- University, hospital or other
- Collaborators
- Alpha-1 Foundation
- Responsible party
- Principal investigator, Charlie Strange, Medical University of South Carolina
- Investigators
- Charlie Strange, M.D., Principal investigator, Medical University of South Carolina
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00499941
- Sponsor's protocol ID
- HR 9059
- Status last verified
- Feb 2021
- First submitted
- 11 Jul 2007
- Last updated
- 3 Mar 2021
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Yes: Data sharing is encouraged by coordinator contact at MUSC
Publications
Williams PH, Shore L, Sineath M, Quill J, Warner B, Keith J, Walker D, Wienke S, Flavin S, Strange C. Genetics' influence on patient experiences with a rare chronic disorder: a photovoice study of living with alpha-1 antitrypsin deficiency. Nurs Clin North Am. 2013 Dec;48(4):627-36. doi: 10.1016/j.cnur.2013.09.008.
PubMed 24295190Smith RA, Wienke S, Coffman DL. Alpha-1 couples: interpersonal and intrapersonal predictors of spousal communication and stress. J Genet Couns. 2014 Apr;23(2):212-20. doi: 10.1007/s10897-013-9639-6. Epub 2013 Aug 11.
PubMed 23934327Smith RA, Wienke SE, Baker MK. Classifying married adults diagnosed with alpha-1 antitrypsin deficiency based on spousal communication patterns using latent class analysis: insights for intervention. J Genet Couns. 2014 Jun;23(3):299-310. doi: 10.1007/s10897-013-9661-8. Epub 2013 Nov 1.
PubMed 24177906Holm KE, Wamboldt FS, Ford DW, Sandhaus RA, Strand M, Strange C, Hoth KF. The prospective association of perceived criticism with dyspnea in chronic lung disease. J Psychosom Res. 2013 May;74(5):450-3. doi: 10.1016/j.jpsychores.2013.02.001. Epub 2013 Feb 28.
PubMed 23597335Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049.
PubMed 23547634Hoth KF, Wamboldt FS, Strand M, Ford DW, Sandhaus RA, Strange C, Bekelman DB, Holm KE. Prospective impact of illness uncertainty on outcomes in chronic lung disease. Health Psychol. 2013 Nov;32(11):1170-4. doi: 10.1037/a0032721. Epub 2013 Jun 17.
PubMed 23772888Hoth KF, Ford DW, Sandhaus RA, Strange C, Wamboldt FS, Holm KE. Alcohol use predicts ER visits in individuals with alpha-1 antitrypsin deficiency (AATD) associated COPD. COPD. 2012 Aug;9(4):417-25. doi: 10.3109/15412555.2012.684414. Epub 2012 May 31.
PubMed 22651849Stoller JK, Brantly M, Fleming LE, Bean JA, Walsh J. Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. Chest. 2000 Sep;118(3):843-8. doi: 10.1378/chest.118.3.843.
PubMed 10988213Bowlus CL, Willner I, Zern MA, Reuben A, Chen P, Holladay B, Xie L, Woolson RF, Strange C. Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2005 Apr;3(4):390-6. doi: 10.1016/s1542-3565(05)00082-0.
PubMed 15822045Eden E, Strange C, Holladay B, Xie L. Asthma and allergy in alpha-1 antitrypsin deficiency. Respir Med. 2006 Aug;100(8):1384-91. doi: 10.1016/j.rmed.2005.11.017. Epub 2006 Jan 5.
PubMed 16403617McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19.
PubMed 21424325
Study at a glance
From the registry record, last updated by the sponsor on 3 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Alpha-1 Foundation Research Registry
- ClinicalTrials.gov ID
- NCT00499941
- Acronym / sponsor ID
- HR 9059
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Keywords
- Alpha 1-Antitrypsin Deficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 6,655 participants (actual)
- Lead sponsor
- Medical University of South CarolinaUniversity, hospital or other
- Collaborators
- Alpha-1 Foundation
- Study start
- Apr 2000
- Primary completion
- Jan 2021 (actual)
- Study completion
- Jan 2021 (actual)
- First posted
- 12 Jul 2007 (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.
The Alpha-1 Foundation Research Registry is a confidential database made up of individuals diagnosed with severe alpha-1 antitrypsin deficiency (Alpha-1) or the carrier state.
Detailed description
The Registry was established in 1997 by the Alpha-1 Foundation to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1. Located at the Medical University of South Carolina (MUSC) in Charleston, the Registry employs procedures that ensure the most stringent confidentiality of participants. The Registry operates under the direction of the Alpha-1 Foundation Board of Directors and is guided by an Advisory Committee comprised of leaders in the medical, ethical, scientific and Alpha communities. Individuals enrolled in the Registry have the ongoing opportunity to participate directly in clinical trials of new therapeutic approaches in addition to other research opportunities.
Study design
- Observational model
- Other
- Time perspective
- Other
- Target follow-up
- 20 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state
Key inclusion criteria (1 listed)
- Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state
Key exclusion criteria (0 listed)
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
To study the natural history of PiZZ, PiSZ, and PiMZ alpha-1 antitrypsin deficiency
Time frame: Not limited
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 3 Mar 2021.
- Background: PubMed 24295190Williams PH, Shore L, Sineath M, Quill J, Warner B, Keith J, Walker D, Wienke S, Flavin S, Strange C. Genetics' influence on patient experiences with a rare chronic disorder: a photovoice study of living with alpha-1 antitrypsin deficiency. Nurs Clin North Am. 2013 Dec;48(4):627-36. doi: 10.1016/j.cnur.2013.09.008.
- Background: PubMed 23934327Smith RA, Wienke S, Coffman DL. Alpha-1 couples: interpersonal and intrapersonal predictors of spousal communication and stress. J Genet Couns. 2014 Apr;23(2):212-20. doi: 10.1007/s10897-013-9639-6. Epub 2013 Aug 11.
- Background: PubMed 24177906Smith RA, Wienke SE, Baker MK. Classifying married adults diagnosed with alpha-1 antitrypsin deficiency based on spousal communication patterns using latent class analysis: insights for intervention. J Genet Couns. 2014 Jun;23(3):299-310. doi: 10.1007/s10897-013-9661-8. Epub 2013 Nov 1.
- Background: PubMed 23597335Holm KE, Wamboldt FS, Ford DW, Sandhaus RA, Strand M, Strange C, Hoth KF. The prospective association of perceived criticism with dyspnea in chronic lung disease. J Psychosom Res. 2013 May;74(5):450-3. doi: 10.1016/j.jpsychores.2013.02.001. Epub 2013 Feb 28.
- Background: PubMed 23547634Holm KE, Borson S, Sandhaus RA, Ford DW, Strange C, Bowler RP, Make BJ, Wamboldt FS. Differences in adjustment between individuals with alpha-1 antitrypsin deficiency (AATD)-associated COPD and non-AATD COPD. COPD. 2013 Apr;10(2):226-34. doi: 10.3109/15412555.2012.719049.
- Background: PubMed 23772888Hoth KF, Wamboldt FS, Strand M, Ford DW, Sandhaus RA, Strange C, Bekelman DB, Holm KE. Prospective impact of illness uncertainty on outcomes in chronic lung disease. Health Psychol. 2013 Nov;32(11):1170-4. doi: 10.1037/a0032721. Epub 2013 Jun 17.
- Background: PubMed 22651849Hoth KF, Ford DW, Sandhaus RA, Strange C, Wamboldt FS, Holm KE. Alcohol use predicts ER visits in individuals with alpha-1 antitrypsin deficiency (AATD) associated COPD. COPD. 2012 Aug;9(4):417-25. doi: 10.3109/15412555.2012.684414. Epub 2012 May 31.
- Results publication: PubMed 10988213Stoller JK, Brantly M, Fleming LE, Bean JA, Walsh J. Formation and current results of a patient-organized registry for alpha(1)-antitrypsin deficiency. Chest. 2000 Sep;118(3):843-8. doi: 10.1378/chest.118.3.843.
- Results publication: PubMed 15822045Bowlus CL, Willner I, Zern MA, Reuben A, Chen P, Holladay B, Xie L, Woolson RF, Strange C. Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2005 Apr;3(4):390-6. doi: 10.1016/s1542-3565(05)00082-0.
- Results publication: PubMed 16403617Eden E, Strange C, Holladay B, Xie L. Asthma and allergy in alpha-1 antitrypsin deficiency. Respir Med. 2006 Aug;100(8):1384-91. doi: 10.1016/j.rmed.2005.11.017. Epub 2006 Jan 5.
- Results publication: PubMed 21424325McGee D, Strange C, McClure R, Schwarz L, Erven M. The Alpha-1 Association Genetic Counseling Program: an innovative approach to service. J Genet Couns. 2011 Aug;20(4):330-6. doi: 10.1007/s10897-011-9355-z. Epub 2011 Mar 19.
- Alpha-1 Foundation Research Registry WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Data sharing is encouraged by coordinator contact at MUSC
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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.
Charlie Strange, M.D. principal investigator
Medical University of South Carolina
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 Alpha 1-Antitrypsin Deficiency, run by Medical University of South Carolina 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 0 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 3 Mar 2021. 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.
What does the primary outcome measure?
To study the natural history of PiZZ, PiSZ, and PiMZ alpha-1 antitrypsin deficiency (time frame: Not limited). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00499941, which also lists 11 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 3 Mar 2021.