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| Name | Class |
|---|---|
| Alpha-1 Foundation | OTHER |
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This is a long-term follow-up banking protocol that collects medical information and tissue (blood, liver and lung) samples for future research; use of data and samples for research purposes is overseen by the Tissue Bank Advisory Committee; the purpose of the Bank is to further research on alpha-1 antitrypsin deficiency.
Subject participation includes completion of informed consent, medical questionnaire, and email authorization. Subjects may provide a blood sample for alpha-1 antitrypsin genotype, phenotype and level. Lung and liver tissue may also be provided if available. Subjects may be contacted no more often than annually for updated information.
This project has a certificate of confidentiality from NIH.
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| Measure | Description | Time Frame |
|---|---|---|
| Data and tissue samples | At the end of 15 years the tissue and data sample usage will be analyzed to determine continuation of the project. Each year the investigator provides a summary to the Alpha-1 Foundation. | The total number of tissue samples received and used for research are tracked annually. |
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Inclusion Criteria:
Exclusion Criteria:
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subjects with alpha-1-antitrypsin deficiency, carriers of deficient alleles and interested individuals
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| Name | Affiliation | Role |
|---|---|---|
| Karina Serban, MD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Gainesville | Florida | 32610 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20054436 | Result | Tonelli AR, Rouhani F, Li N, Schreck P, Brantly ML. Alpha-1-antitrypsin augmentation therapy in deficient individuals enrolled in the Alpha-1 Foundation DNA and Tissue Bank. Int J Chron Obstruct Pulmon Dis. 2009;4:443-52. doi: 10.2147/copd.s8577. Epub 2009 Dec 29. | |
| 22835581 | Result | Clark VC, Dhanasekaran R, Brantly M, Rouhani F, Schreck P, Nelson DR. Liver test results do not identify liver disease in adults with alpha(1)-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2012 Nov;10(11):1278-83. doi: 10.1016/j.cgh.2012.07.007. Epub 2012 Jul 24. |
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| ID | Term |
|---|---|
| D019896 | alpha 1-Antitrypsin Deficiency |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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blood, liver and lung
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D013352 | Subcutaneous Emphysema |
| D004646 | Emphysema |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |