alpha 1-antitrypsin deficiency
Information
- Disease name
- alpha 1-antitrypsin deficiency
- Disease ID
- DOID:13372
- Description
- "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells." [url:http\://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000120.htm, url:https\://alpha1.org/what-is-alpha1/, url:https\://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03946449 | Active, not recruiting | Phase 2 | Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD) | December 19, 2019 | August 23, 2024 |
| NCT05297812 | Active, not recruiting | Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease | March 23, 2022 | January 2027 | |
| NCT04764448 | Active, not recruiting | Phase 2 | A Study of Belcesiran in Patients With AATLD | February 12, 2021 | December 1, 2026 |
| NCT00263887 | Completed | Phase 2 | Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) | December 2003 | January 2007 |
| NCT00295061 | Completed | Phase 3 | Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults | May 2006 | February 2007 |
| NCT00301366 | Completed | Phase 3 | The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency | June 2006 | March 2007 |
| NCT00377416 | Completed | Early Phase 1 | Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin Deficiency | March 2004 | January 2020 |
| NCT00396006 | Completed | Phase 4 | Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor) | October 27, 2006 | December 14, 2007 |
| NCT00430768 | Completed | Phase 1 | Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency | February 2006 | January 2015 |
| NCT00001462 | Completed | Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals | May 1995 | April 2000 | |
| NCT00499941 | Completed | Alpha-1 Foundation Research Registry | April 2000 | January 2021 | |
| NCT01676688 | Completed | Safety Study of Alfalastin (Human Alpha-1 Antitrypsin) Administered at Home | January 2012 | October 2012 | |
| NCT02168686 | Completed | Phase 1/Phase 2 | Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency | November 28, 2017 | August 29, 2019 |
| NCT00460096 | Completed | Phase 2/Phase 3 | Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin Deficiency | March 2007 | September 2007 |
| NCT00067756 | Completed | Phase 2 | 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? | November 2001 | October 2003 |
| NCT00242385 | Completed | Phase 1 | Pharmacokinetic Study of ARALAST (Human Alpha1- PI) | December 20, 2005 | June 5, 2006 |
| NCT03039335 | Completed | The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency | December 15, 2016 | April 15, 2018 | |
| NCT03114020 | Completed | Phase 2 | Efficacy/Safety of HA Inhalation Solution for Hereditary Emphysema in Patients With Alpha-1 Antitrypsin Deficiency | March 22, 2017 | November 12, 2019 |
| NCT03362242 | Completed | Phase 1 | Study of ARO-AAT in Normal Adult Volunteers | March 12, 2018 | March 21, 2020 |
| NCT03636347 | Completed | Phase 2 | A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo. | October 29, 2018 | March 30, 2022 |
| NCT03945292 | Completed | Phase 2 | Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT) | August 7, 2019 | September 18, 2023 |
| NCT04174118 | Completed | Phase 1 | Study of DCR-A1AT in Healthy Adult Volunteers | October 24, 2019 | March 6, 2023 |
| NCT05579431 | Completed | Phase 1 | A Phase 1, First-in-human Study of VX-634 | October 13, 2022 | November 13, 2023 |
| NCT03172455 | No longer available | Early Access Program Using Alpha 1 Antitrypsin Infusion for Patients With Steroid Refractory Acute GvHD After Hematopoietic Stem Cell Transplantation (HSCT) | |||
| NCT05897424 | Not yet recruiting | Phase 2 | Open Label Extension Study of INBRX-101 in Adults With AATD Emphysema | June 2024 | December 2027 |
| NCT06389877 | Not yet recruiting | Phase 1/Phase 2 | A Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients With Alpha-1 Antitrypsin Deficiency (AATD) | May 2024 | August 2027 |
| NCT04157049 | Recruiting | Alpha-1 Research Registry | June 20, 2019 | June 20, 2029 | |
| NCT06049082 | Recruiting | Phase 1 | A Study of KB408 for the Treatment of Alpha-1 Antitrypsin Deficiency | February 15, 2024 | May 2026 |
| NCT04180319 | Recruiting | EARCO REGISTRY. History Of Patients With Alpha-1 Antitrypsin | February 5, 2020 | February 5, 2025 | |
| NCT04204252 | Recruiting | Phase 3 | Evaluate Efficacy and Safety of "Kamada-AAT for Inhalation" in Patients With AATD | November 25, 2019 | September 2027 |
| NCT04966221 | Recruiting | Functional and Structural Lung Imaging in Chronic Obstructive Pulmonary Disease | January 1, 2022 | August 1, 2024 | |
| NCT03455686 | Recruiting | N/A | Exploring the Utility of Hyperpolarized 129Xe MRI in Healthy Volunteers and Patients With Lung Disease | April 19, 2018 | December 2024 |
| NCT05856331 | Recruiting | Phase 2 | Study of INBRX-101 Compared to Plasma-derived A1PI Therapy in Adults With AATD Emphysema | October 12, 2023 | June 2025 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT00571272 | Suspended | Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) | November 30, 2007 | May 2029 | |
| NCT00005098 | Terminated | Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency | March 1999 | ||
| NCT04167345 | Terminated | Phase 2 | Evaluation of the Efficacy and Safety of VX-814 in Subjects With the PiZZ Genotype | January 13, 2020 | November 14, 2020 |
| NCT03802357 | Unknown status | N/A | Effects of Different Exercise Training Modalities in Alpha-1 Antitrypsin Deficiency Patients | January 10, 2019 | December 31, 2021 |
| NCT02691611 | Unknown status | Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency | December 2015 | November 2020 | |
| NCT00700934 | Unknown status | Management of Patients With Alpha-1 Antitrypsin Deficiency Associated Emphysema | February 2005 | February 2012 | |
| NCT03285100 | Unknown status | The Effects of Discontinuation of Vitamin K Antagonists on the Rate of Elastin Degradation | October 31, 2017 | October 1, 2018 | |
| NCT03385395 | Withdrawn | Phase 2 | Study Comparing Weekly Intravenous Administration of OctaAlpha1 With a Marketed Preparation Glassia® in Subjects With Alpha-1-antitrypsin Deficiency | July 2018 | December 2019 |
| NCT05146882 | Withdrawn | Phase 2 | An Extension Study of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATLD) | December 2021 | May 23, 2022 |
- Disase is a (Disease Ontology)
- DOID:2345
- Cross Reference ID (Disease Ontology)
- GARD:5784
- Cross Reference ID (Disease Ontology)
- ICD10CM:E88.01
- Cross Reference ID (Disease Ontology)
- ICD9CM:273.4
- Cross Reference ID (Disease Ontology)
- MESH:D019896
- Cross Reference ID (Disease Ontology)
- MIM:613490
- Cross Reference ID (Disease Ontology)
- NCI:C84397
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:30188007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0221757
- Exact Synonym (Disease Ontology)
- AAT deficiency
- MeSH unique ID (MeSH (Medical Subject Headings))
- D019896