Disease · MONDO_0013282

alpha 1-antitrypsin deficiency

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. alpha 1-antitrypsin deficiency. Diseases, record MONDO_0013282. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0013282

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: alpha 1-antitrypsin deficiency; Open Targets
Open Targets ID: MONDO_0013282; Open Targets
Other names: A-1ATD, A1AD, AAT deficiency, ALPHA-1-ANTITRYPSIN DEF, Alpha-1-antitrypsin deficiency (disorder), deficiency in Alpa-1-proteinase inhibitor, emphysema due to AAT deficiency, emphysema-cirrhosis, due to AAT deficiency, hemorrhagic diathesis due to antithrombin pittsburgh; Open Targets
Disease Ontology: DOID:13372; Disease Ontology
MeSH: D019896; MeSH
NCI Thesaurus: C84397; NCI Thesaurus
Orphanet: ORPHA:60; Orphanet
Highest stage of its drugs: Approval, for 1 of its 7 drugs, from TTD; Open Targets

Drugs7

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
.ALPHA.1-PROTEINASE INHIBITOR HUMAN	CHEMBL4297879	Protein	Approval	TTD	14	13	12	Drugs and targets
FAZIRSIRAN	CHEMBL5095435	Oligonucleotide	Phase 3	TTD	5	1	1	Drugs and targets
MYCOPHENOLATE MOFETIL	CHEMBL1456	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ALVELESTAT	CHEMBL3617964	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
BELCESIRAN	CHEMBL4650380	Oligonucleotide	Phase 2	TTD	2	0	0	Drugs and targets
SODIUM NITRITE	CHEMBL93268	Small molecule	Phase 1	ClinicalTrials.gov	1	1	0	Drugs and targets
FAZIRSIRAN SODIUM	CHEMBL5095436	Oligonucleotide	Unknown	USAN	1	0	0	Drugs and targets

Targets3

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
ELANE	Neutrophil elastase	2	Leukocyte elastase inhibitor	Approval	https://conductscience.org/library/genes/1991	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 3	https://conductscience.org/library/genes/3614	Drugs and targets
IMPDH2	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 3	https://conductscience.org/library/genes/3615	Drugs and targets

Trials15

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00313144	Aralast alpha1-proteinase Inhibitor Surveillance Study	Phase 4	127	2011-08-26	Alpha1-antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT01014442	A Study of Mycophenolate Mofetil (CellCept) in Lung Transplant Recipients	Phase 3	68	2017-02-10	Lung Transplantation	MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT03679598	Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency	Phase 2	63	2024-07-09	Alpha-1 Antitrypsin Deficiency (AATD), PiZZ, PiSZ, Pi*Null, Another Rare Phenotype/Genotype Known to be Associated With Either Low or Functionally Impaired AAT Including F or I Mutations, Emphysema or COPD	ALVELESTAT	Its record names the disease	ClinicalTrials.gov
NCT03945292	Safety, Tolerability and Pharmacodynamic Effect of Fazirsiran (TAK-999, ARO-AAT)	Phase 2	40	2024-12-30	Alpha 1-Antitrypsin Deficiency	FAZIRSIRAN	Its record names the disease	ClinicalTrials.gov
NCT02001688	Phase II, Safety and Efficacy Study of Kamada-alpha-1-antitrypsin (AAT) for Inhalation"	Phase 2	36	2020-01-18	Alpha-1 Antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT02282527	A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency	Phase 2/3	32	2017-03-13	Alpha₁-Antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT01213043	Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency	Phase 2	30	2013-05-20	Emphysema, Alpha 1-antitrypsin Deficiency (AATD)	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT00242385	Pharmacokinetic Study of ARALAST (Human Alpha1- PI)	Phase 1	25	2011-07-20	Alpha 1-Antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT00396006	Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor)	Phase 4	21	2011-01-04	Alpha 1-Antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov
NCT01669421	Effect of Double Dose of Alpha 1-antitrypsin Augmentation Therapy on Lung Inflammation.	Phase 2	10	2019-05-08	Alpha 1 Antitrypsin Deficiency	.ALPHA.1-PROTEINASE INHIBITOR HUMAN	Its record names the disease	ClinicalTrials.gov

1 to 10 of 15

See all 15 trials

Comparisons in its trials14

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
MMF - Cystic Fibrosis vs MMF - COPD, Emphysema, IPF, or A1AD: serious adverse events	13 of 33	14 of 35	68	NCT01014442	Trial comparisons
Liquid Alpha₁-PI vs Prolastin-C: serious adverse events	0 of 32	1 of 31	63	NCT02282527	Trial comparisons
Alvelestat (MPH966) vs Placebo: Numbers and % of Subjects Who Experience at Least 1 Treatment-emergent Adverse Event	25 of 32	23 of 31	63	NCT03679598	Trial comparisons
Alvelestat (MPH966) vs Placebo: deaths from any cause	0 of 32	0 of 31	63	NCT03679598	Trial comparisons
Alvelestat (MPH966) vs Placebo: serious adverse events	0 of 32	0 of 31	63	NCT03679598	Trial comparisons
60 mg/kg Prolastin-C vs 120 mg/kg Prolastin-C: Subjects Withdrawn Due to an AE(s)	0 of 30	0 of 30	60	NCT01213043	Trial comparisons
60 mg/kg Prolastin-C vs 120 mg/kg Prolastin-C: Subjects With Treatment-Emergent Pulmonary Exacerbation(s)	7 of 30	5 of 30	60	NCT01213043	Trial comparisons
60 mg/kg Prolastin-C vs 120 mg/kg Prolastin-C: Subjects With Severe TEAE(s) or Pulmonary Exacerbation(s)	0 of 30	0 of 30	60	NCT01213043	Trial comparisons
60 mg/kg Prolastin-C vs 120 mg/kg Prolastin-C: Subjects With Drug-Related TEAE(s)	3 of 30	1 of 30	60	NCT01213043	Trial comparisons
60 mg/kg Prolastin-C vs 120 mg/kg Prolastin-C: Subjects With Treatment-Emergent Serious Adverse Events (SAEs)	0 of 30	0 of 30	60	NCT01213043	Trial comparisons

1 to 10 of 14

See all 14 comparisons in its trials

Papers from its trials5

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
38964420	DERIVED	1	PubMed
36001294	DERIVED	2	PubMed
34256305	DERIVED	1	PubMed
30965011	DERIVED	1	PubMed
23822603	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0013282

GET https://conductscience.org/api/diseases/v1/MONDO_0013282/drugs

API reference For AI assistants