Recruiting

Observational Study

Sponsor:

Alpha-1 Foundation

Code:

NCT04157049

Conditions

Alpha 1-Antitrypsin Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The Alpha-1 Research Registry is a confidential database made up of individuals diagnosed with Alpha-1 Antitrypsin Deficiency (Alpha-1) and individuals identified as Alpha-1 carriers. The Registry was established to facilitate research initiatives and promote the development of improved treatments and a cure for Alpha-1.

Conditions

Alpha 1-Antitrypsin Deficiency

Study ID

NCT04157049

Start date

Jun 20, 2019

Status verified date

Aug, 2026

Completion date

Jun 20, 2029

Anticipated

Primary completion date

Jun 20, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Patients diagnosed with Alpha-1 Antitrypsin Deficiency (PiZZ, PiZNull, PiSZ etc.)
  • Alpha-1 carriers (PiMZ, PiMS etc.)

Exclusion Criteria:

  • Failure to provide informed consent
  • Normal healthy individuals (MM)

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Alpha-1 Diagnosed Individuals

Larger patient cohorts are needed to support the clinical trials coming in the next 3-5 years. Despite widespread invitations to the Alpha-1 community from the Alpha-1 Foundation Research Registry, it is estimated that the Alpha-1 Foundation Research Registry now contains <40% of the identified PiZZ individuals in the US.

Carriers of Alpha-1

Larger patient cohorts are needed to support the clinical trials coming in the next 3-5 years. Despite widespread invitations to the Alpha-1 community from the Alpha-1 Foundation Research Registry, it is estimated that the Alpha-1 Foundation Research Registry now contains <40% of the identified PiZZ individuals in the US.

Primary outcome measure

  • Establish the Alpha-1 Research Registry using REDCap [ Time Frame: 8 years ]

Central Contacts and Locations

Central contacts

Alison Keaveny, MBBS

1-877-228-7321akeaveny@alpha1.org

Randel Plant

1-877-228-7321rplant@alpha1.org

Locations

Alpha-1 Foundation

Recruiting

Coral Gables, Florida, United States, 33134

Contacts

Alison Keaveny, MBBS

1-877-228-7321akeaveny@alpha1.org

Nadine Nuchovich, MPH

1-877-228-7321nnuchovich@alpha1.org

Principal Investigator:

Jeanine D'Armiento, MD, PhD

More Information

Sponsor

Alpha-1 Foundation

Last update posted

Aug 19, 2026

Last verified

Aug, 2026

Keywords

  • AATD
  • ALPHA 1
  • COPD
  • AAT
  • ZZ
  • MZ
  • CARRIER
  • MM
  • MS
  • PiZZ

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Alpha-1 Foundation on 2026-08-19.