Alpha-1-antitrypsin deficiency

Last reviewed

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ORPHA:60OMIM:613490E88.0
Who is this for?
Show terms as
2FDA treatments27Active trials63Specialists8Treatment centers5Financial resources

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Alpha-1 Antitrypsin Deficiency is treated with 1 medication in our database, including ALBUMINEX. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Bio Products Laboratory. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Alpha-1 Antitrypsin Deficiency treatment below.

Also known as:

Clinical phenotype terms— hover any for plain English:

EmphysemaHP:0002097Reduced circulating alpha-1-antitrypsin concentrationHP:0032025Neonatal unconjugated hyperbilirubinemiaHP:0008176BronchitisHP:0012387Decreased DLCOHP:0045051Intrahepatic inclusion bodiesHP:6000976Chronic pulmonary obstructionHP:0006510Cytoplasmic antineutrophil antibody positivityHP:0032230Hepatocellular carcinomaHP:0001402
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Apr 2026Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD)

CSL Behring — PHASE4

TrialNOT YET RECRUITING
Feb 2026A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)

AIRNA Corporation — PHASE1

TrialRECRUITING
Jan 2026Prevalence of Alpha-1 Antitrypsin Deficiency in Non-Cirrhotic Liver Cancer

University Hospital, Bordeaux

TrialNOT YET RECRUITING
Dec 2025A Study of TSRA-196 in Adults With PiZZ Alpha-1 Antitrypsin Deficiency (AATD)

Tessera Therapeutics, Inc. — PHASE1, PHASE2

TrialNOT YET RECRUITING
Sep 2025Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency

University of Alabama at Birmingham — PHASE4

TrialRECRUITING
Aug 2025Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction

Muğla Sıtkı Koçman University

TrialRECRUITING
Jun 2025Study of YOLT-202 in the Treatment of Alpha-1 Antitrypsin Deficiency (AATD)

RenJi Hospital — EARLY_PHASE1

TrialACTIVE NOT RECRUITING
May 2025PiMZ Longitudinal Cohort (PiMZ Logic)

Columbia University

TrialRECRUITING
Feb 2025Gene Therapy for Alpha 1- Antitrypsin Deficiency

Weill Medical College of Cornell University — PHASE1

TrialRECRUITING
Feb 2025Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants

BioMarin Pharmaceutical — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

2 available

Prolastin

Alpha1-proteinase inhibitor (human)· Bayer CorporationOrphan Drug

For chronic replacement therapy of individuals having congenital deficiency of alpha1- proteinase inhibitor with clinically demonstrable panacinar emphysema.

ALBUMINEX

Albumin Human· Bio Products Laboratory

Detailed copay and financial assistance information is not publicly available for this medication at this time. Please consult your pharmacist or the manufacturer's official patient support program fo

Clinical Trials

20 recruitingView all trials with filters →
Phase 36 trials
Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)
Phase 3
Active
· Sites: Phoenix, Arizona; Gainesville, Florida +50 more · Age: 1870 yrs
An Extension Study to Learn About the Long-Term Safety of Fazirsiran and if Fazirsiran Can Help People With Alpha-1 Antitrypsin Liver Disease
Phase 3
Active
PI: Study Director (Takeda) · Sites: La Jolla, California; Redwood City, California +8 more · Age: 1899 yrs
Phase III, Efficacy and Safety of "Kamada-AAT for Inhalation"
Phase 3
Actively Recruiting
PI: Jan Stolk, Prof (LUMC) · Sites: Leuven; Tampere +7 more · Age: 1865 yrs
Study to Learn About the Safety of Fazirsiran and if it Can Help People With Alpha-1 Antitrypsin Liver Disease With Mild Liver Scarring (Fibrosis)
Phase 3
Actively Recruiting
PI: Study Director (Takeda) · Sites: Phoenix, Arizona; Phoenix, Arizona +39 more · Age: 1875 yrs
Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency
Phase 3
Enrolling by Invitation
· Sites: Phoenix, Arizona; Miami, Florida +26 more · Age: 2072 yrs
Study to Check the Safety of Fazirsiran and Learn if Fazirsiran Can Help People With Liver Disease and Scarring (Fibrosis) Due to an Abnormal Version of Alpha-1 Antitrypsin Protein
Phase 3
Actively Recruiting
PI: Study Director (Takeda) · Sites: Birmingham, Alabama; Phoenix, Arizona +87 more · Age: 1875 yrs
Phase 41 trial
Genetic Variation in IgG in Alpha 1 Antitrypsin Deficiency
Phase 4
Actively Recruiting
· Sites: Birmingham, Alabama · Age: 1999 yrs
Phase 21 trial
Long-term, Open-label Study of SAR447537 (INBRX-101) in Adults With Alpha-1 Antitrypsin Deficiency Emphysema
Phase 2
Actively Recruiting
PI: Clinical Sciences & Operations (Sanofi) · Sites: Birmingham, Alabama; Phoenix, Arizona +38 more · Age: 1880 yrs
Phase 11 trial
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
Phase 1
Actively Recruiting
PI: Clinical Information (AIRNA Corporation) · Sites: Melbourne; London · Age: 1874 yrs
Other9 trials
PiMZ Longitudinal Cohort (PiMZ Logic)
Actively Recruiting
PI: Monica Goldklang, MD (Columbia University) · Sites: Birmingham, Alabama; Los Angeles, California +3 more · Age: 1899 yrs
Alpha-1 Research Registry
Actively Recruiting
· Sites: Coral Gables, Florida
Alpha-1 Foundation DNA and Tissue Bank
Enrolling by Invitation
PI: Karina Serban, MD (University of Florida) · Sites: Gainesville, Florida · Age: 0100 yrs
A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems
Actively Recruiting
PI: Study Director (Takeda) · Sites: Gainesville, Florida; Aachen, North Rhine-Westphalia · Age: 1899 yrs
Czech AATD Registry
Actively Recruiting
PI: Jan MD Chlumsky, PhD (Thomayer University Hospital) · Sites: Prague, Czech Republic
Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction
Actively Recruiting
· Sites: Muğla, Menteşe · Age: 1899 yrs
The Alpha-1 Foundation's and University of Florida's Alpha-1 Coded Testing (ACT) Study
Actively Recruiting
PI: Karina Serban, M.D. (University of Florida) · Sites: Gainesville, Florida
Alpha-1 Antitrypsin Deficiency Adult Liver Study
Active
PI: Jeffrey Teckman, MD (St. Louis University) · Sites: San Diego, California; Boston, Massachusetts +1 more · Age: 1899 yrs
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
Active
PI: Jeanine M D'Armiento, MD, PhD (Columbia University) · Sites: Birmingham, Alabama; Los Angeles, California +7 more · Age: 1899 yrs

Specialists

Showing 25 of 63View all specialists →
KM
Karina Serban, MD
Gainesville, Florida
Specialist

Rare Disease Specialist

PI on 2 active trials
NM
Noel G McElvaney
Specialist
7 Alpha-1-antitrypsin deficiency publications
DF
Daniel D Fraughen
Specialist
4 Alpha-1-antitrypsin deficiency publications
MP
Monica Pons
Specialist
4 Alpha-1-antitrypsin deficiency publications
MF
Malin Fromme
Specialist
4 Alpha-1-antitrypsin deficiency publications
DP
Dhiren Patel
Specialist
3 Alpha-1-antitrypsin deficiency publications
TC
Tomás P Carroll
Specialist
6 Alpha-1-antitrypsin deficiency publications
PS
Pavel Strnad
Specialist
6 Alpha-1-antitrypsin deficiency publications
CS
Carolin V Schneider
Specialist
3 Alpha-1-antitrypsin deficiency publications
HT
Hanan Tanash
Specialist
3 Alpha-1-antitrypsin deficiency publications
OM
Oliver J McElvaney
SEATTLE, WA
Specialist
4 Alpha-1-antitrypsin deficiency publications
MB
Mark Brantly
GAINESVILLE, FL
Specialist
3 Alpha-1-antitrypsin deficiency publications
MM
Marc Miravitlles
Specialist
PI on 1 active trial5 Alpha-1-antitrypsin deficiency publications
CT
Christian Trautwein
Specialist
3 Alpha-1-antitrypsin deficiency publications
AK
Aleksander Krag
Specialist
3 Alpha-1-antitrypsin deficiency publications
PR
Program Director, Clinical R&D
Specialist
PI on 12 active trials
RM
Ronald G Crystal, MD
NEW YORK, NY
Specialist
PI on 12 active trials
KD
Klaus Kenn, Prof. Dr.
Specialist
PI on 4 active trials
FD
Francisco Dasí
Specialist
2 Alpha-1-antitrypsin deficiency publications
JC
Jan MD Chlumsky
Specialist
PI on 1 active trial
KL
Kathleen Loomes
PHILADELPHIA, PA
Specialist
PI on 1 active trial
MS
Mark Schluchter
Specialist
PI on 1 active trial
PG
Pantaleo Giannuzzi
Specialist
PI on 1 active trial
DG
Daniela Gompelmann
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

5 resources

HealthWell Foundation — Alpha-1-antitrypsin deficiency

HealthWell Foundation

Alpha-1-antitrypsin deficiency

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

NORD Patient Assistance — Alpha-1-antitrypsin deficiency

NORD Patient Assistance

Alpha-1-antitrypsin deficiency

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

Patient Services Inc — Alpha-1-antitrypsin deficiency

Patient Services Inc

Alpha-1-antitrypsin deficiency

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

PAN Foundation — Alpha-1-antitrypsin deficiency

PAN Foundation

Alpha-1-antitrypsin deficiency

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

The Assistance Fund — Alpha-1-antitrypsin deficiency

The Assistance Fund

Alpha-1-antitrypsin deficiency

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

Travel Grants

No travel grants are currently matched to Alpha-1-antitrypsin deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Alpha-1-antitrypsin deficiency

5 articles
NewsRSSApr 23, 2026
My Take on Nontraditional Medicine in Treating AATD
A patient with AATD (a rare lung disease caused by low levels of a protective protein) shares her personal experiences with complementary and alternative medici
NewsRSSApr 22, 2026
Flying High With AATD: Finding Inspiration From a Movie
A patient with AATD (Alpha-1 Antitrypsin Deficiency) found personal inspiration by watching the movie Top Gun: Maverick, discovering parallels between the fight
NewsRSSApr 22, 2026
AATD on a Good Day: A Glimpse Into Life With a Rare Disease
A person who used to work as a nutrition counselor shares what it's really like to have a good day while living with AATD (alpha-1 antitrypsin deficiency). The
AdvocacyRSSApr 22, 2026
Why Aren’t More Physicians Talking to Patients With AATD About Air Trapping?
A patient with AATD (alpha-1 antitrypsin deficiency) is raising awareness that doctors aren't talking enough with their patients about air trapping—a condition
NewsRSSApr 22, 2026
AATD and the Importance of Having Fun
When you have a rare disease like Alpha-1 Antitrypsin Deficiency (AATD), taking care of your mental health is just as important as managing your physical sympto
See all news about Alpha-1-antitrypsin deficiency

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Alpha-1-antitrypsin deficiency

What is Alpha-1-antitrypsin deficiency?

Alpha-1 Antitrypsin Deficiency is treated with 1 medication in our database, including ALBUMINEX. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Bio Products Laboratory. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Alpha-1 Antitrypsin Deficiency treatment below.

How is Alpha-1-antitrypsin deficiency inherited?

Alpha-1-antitrypsin deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Alpha-1-antitrypsin deficiency?

Yes — 20 recruiting clinical trials are currently listed for Alpha-1-antitrypsin deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Alpha-1-antitrypsin deficiency?

25 specialists and care centers treating Alpha-1-antitrypsin deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Alpha-1-antitrypsin deficiency?

1 FDA-approved treatment and 6 patient support programs are currently tracked on UniteRare for Alpha-1-antitrypsin deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.