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ORPHA:60

Alpha-1-antitrypsin deficiency

medium confidenceDisorder

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

Publications

16,687

96.9th percentile

Trials

79

Interventional, condition-specific

Researchers

1,207

Distinct authors in sample

Gene link

SERPINA1

Strong

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — SERPINA1

  2. LiteraturePresent

    16,687 matched papers (9,672 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Gastric varix; Increased sputum production; Wheezing) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. hyaluronic acid Source

  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)

37

Associated phenotypes · MONDO:0013282

  • Gastric varix
  • Increased sputum production
  • Wheezing
  • Intrahepatic inclusion bodies
  • Cirrhosis

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · 1 with FDA orphan-indication approval

  • FDA hyaluronic acidEmphysema ALPHA-1 ANTITRYPSIN DEFICIENCY · 2002-03-19 · Not FDA Approved for Orphan Indication
  • EMA efdoralprin alfaTreatment of alpha-1 antitrypsin deficiency · 09/12/2025 · PositiveEMA designation
  • EMA RNA editing antisense oligonucleotide against the Z mutation of the human SERPINA1 mRNA transcript, sodium saltTreatment of alpha-1 antitrypsin deficiency · 22/08/2025 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0013282

CTD chemicals (MyDisease.info)

1 associated chemical · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Iron · marker/mechanism

Pathways: Complement and coagulation cascades; Hemostasis; Platelet degranulation; Innate Immune System; Immune System; ER to Golgi Anterograde Transport; Membrane Trafficking; COPII (Coat Protein 2) Mediated Vesicle Transport

MyDisease.info · MONDO:0013282

Literature

Is anyone studying this?

16,687

16,687 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=3967) is 59.

16,687 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

9,672 in the last 10 years · medium confidence · 96.9th percentile (publications denominator)

Phrase hits: 10,873 · MeSH hits: 246

Open Europe PMC search

Who's working on it?

1,207

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
    Strnad P15 papers · 2026

    Department of Internal Medicine III, University Hospital, Rheinisch-Westfälische Technische Hochschule, Aachen University, Health Care Provider of the European Reference Network on Rare Liver Disorders, Aachen, Germany.

    Papers in Europe PMC
  2. 02
    Turner AM12 papers · 2026

    Institute for Applied Health Research, University of Birmingham, Birmingham, United Kingdom.

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

    Department of Internal Medicine, and Therapeutics, Center for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, IRCCS San Matteo Polyclinic Foundation, University of Pavia, Pavia, Italy - ilaria.ferrarotti@unipv.it.

    Papers in Europe PMC
  4. 04
    Miravitlles M9 papers · 2026

    Department of Pneumology, Universitary Hospital Vall d'Hebron/Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain; Department of Medicine, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain. Electronic address: marcm@separ.es.

    Papers in Europe PMC
  5. 05
    Fromme M8 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Lomas DA8 papers · 2026

    Division of Medicine, UCL Respiratory, Rayne Institute, University College London, London, UK.

    Papers in Europe PMC
  7. 07
    Strange C8 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Tanash H7 papers · 2026

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

    Papers in Europe PMC
  9. 09
    López-Campos JL6 papers · 2026

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

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

    Section of Pneumology, IRCCS San Matteo Polyclinic Foundation, 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 11 September 2026 · last trial check 28 July 2026

79 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.2th percentile).

medium confidence · 98.2th 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

37 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 35 · after dedupe 35 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 35 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (35)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Alpha-1-antitrypsin deficiency — check Associations / patient organisations on that page.

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") OR (MESH:"alpha 1-Antitrypsin Deficiency") OR ("SERPINA1" OR "SERPINA1 syndrome" OR "SERPINA1-related")

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"

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 · 37 observational · 1 expanded access. Only interventional studies enter the trial headline.

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

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