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ORPHA:60

Alpha-1-antitrypsin deficiency

medium confidenceDisorder

Also known as: Alpha-1-proteinase inhibitor deficiency · Alpha1-antitrypsin deficiency

Publications

10,873

97.6th percentile

Trials

79

Interventional, condition-specific

Researchers

1,161

Distinct authors in sample

Gene link

SERPINA1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare , disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (9)

A-1ATD · A1AD · AAT deficiency · Alpha-1 Antitrypsin Deficiency · alpha 1-antitrypsin deficiency · deficiency in Alpa-1-proteinase inhibitor · emphysema due to AAT deficiency · emphysema-cirrhosis, due to AAT deficiency · hemorrhagic diathesis due to antithrombin pittsburgh

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — SERPINA1

  2. LiteraturePresent

    10,873 matched papers (5,197 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    79 matched on ClinicalTrials.gov (13 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SERPINA1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

10,873

10,873 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

10,873 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

5,197 in the last 10 years · medium confidence · 97.6th percentile (publications denominator)

Phrase hits: 10,873 · MeSH hits: 246

Open Europe PMC search

Who's working on it?

1,161

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Turner AM14 papers · 2026

    Department of Applied Health Sciences, University of Birmingham, Birmingham, UK.

    Papers in Europe PMC
  2. 02
    Strnad P12 papers · 2026

    Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), University Hospital RWTH Aachen, Aachen, Germany.

    Papers in Europe PMC
  3. 03
    Ferrarotti I11 papers · 2026

    Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. I.Ferrarotti@smatteo.pv.it.

    Papers in Europe PMC
  4. 04
    Miravitlles M10 papers · 2026

    Pneumology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus - Health Care Provider of the European Reference Network on Rare Respiratory Diseases (ERN LUNG), Barcelona, Spain.

    Papers in Europe PMC
  5. 05
    Lomas DA8 papers · 2026

    UCL Respiratory, University College London, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Tanash H8 papers · 2026

    Department of Medicine, Skåne University Hospital, Lund University, Lund, Sweden.

    Papers in Europe PMC
  7. 07
    López-Campos JL7 papers · 2026

    Unidad Médico-Quirúrgica de Enfermedades Respiratorias, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Strange C7 papers · 2026

    Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Medical University of South Carolina, Charleston, SC, USA.

    Papers in Europe PMC
  9. 09
    Fromme M6 papers · 2026

    Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, Health Care Provider of the European Reference Network on Rare Liver Disorders (ERN RARE LIVER), University Hospital RWTH Aachen, Aachen, Germany.

    Papers in Europe PMC
  10. 10
    Ottaviani S6 papers · 2026

    Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, UOC Pulmonology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

79

interventional trials for this specific condition

79 interventional trials matched this specific condition name; 13 currently recruiting in our sample.

Data as of 27 July 2026

79 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.1th percentile).

medium confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

79 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

38 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Alpha-1-antitrypsin deficiency" OR "Alpha-1-proteinase inhibitor deficiency" OR "Alpha1-antitrypsin deficiency" OR "A-1ATD" OR "AAT deficiency" OR "Alpha-1 Antitrypsin Deficiency" OR "alpha 1-antitrypsin deficiency" OR "deficiency in Alpa-1-proteinase inhibitor" OR "emphysema due to AAT deficiency" OR "emphysema-cirrhosis, due to AAT deficiency" OR "hemorrhagic diathesis due to antithrombin pittsburgh"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: alpha 1-Antitrypsin Deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Alpha-1-antitrypsin deficiency" OR "Alpha-1-proteinase inhibitor deficiency" OR "Alpha1-antitrypsin deficiency" OR "A-1ATD" OR "AAT deficiency" OR "Alpha-1 Antitrypsin Deficiency" OR "alpha 1-antitrypsin deficiency" OR "deficiency in Alpa-1-proteinase inhibitor" OR "emphysema due to AAT deficiency" OR "emphysema-cirrhosis, due to AAT deficiency" OR "hemorrhagic diathesis due to antithrombin pittsburgh" OR "SERPINA1"

Recall-expansion terms: SERPINA1

Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 79 interventional · 38 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: A1AD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:16:26.217Z