Alpha-1 Foundation Research Registry

NCT00499941 | Completed DMC

• 1 other identifier: HR 9059
• Study Type: observational
• Target: 6,655
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Alpha 1-Antitrypsin Deficiency

Keywords

Alpha 1-Antitrypsin Deficiency

Outcome Measures

Primary Outcomes (1)

• To study the natural history of PiZZ, PiSZ, and PiMZ alpha-1 antitrypsin deficiency

  Not limited

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state

You may qualify if:

• Individuals of all ages who are diagnosed with severe alpha-1 antitrypsin deficiency or the carrier state

Sponsors & Collaborators

• Medical University of South Carolina: lead
• Alpha-1 Foundation: collaborator

Study Sites (1)

Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine

Charleston, South Carolina, 29425, United States

Location

Related Publications (11)

• 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.

  PMID: 24295190 BACKGROUND

• Smith 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.

  PMID: 23934327 BACKGROUND

• Smith 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.

  PMID: 24177906 BACKGROUND

• Holm 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.

  PMID: 23597335 BACKGROUND

• Holm 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.

  PMID: 23547634 BACKGROUND

• Hoth 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.

  PMID: 23772888 BACKGROUND

• Hoth 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.

  PMID: 22651849 BACKGROUND

• Stoller 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.

  PMID: 10988213 RESULT

• Bowlus 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.

  PMID: 15822045 RESULT

• Eden 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.

  PMID: 16403617 RESULT

• McGee 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.

  PMID: 21424325 RESULT

Related Links

• Alpha-1 Foundation Research Registry Website

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Charlie Strange, M.D.

  Medical University of South Carolina

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Pulmonary and Critical Care Medicine

Study Record Dates

• First Submitted: July 11, 2007
• First Posted: July 12, 2007
• Study Start: April 1, 2000
• Primary Completion: January 1, 2021
• Study Completion: January 1, 2021
• Last Updated: March 3, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will share

Locations

US (1)