A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-09-25

Study Completion Date

2032-04-06

Brief Summary

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The main aim of this study is to learn about liver problems caused by the lack of alpha-1 antitrypsin (called Alpha-1 Antitrypsin Deficiency or AATD) in adults when not treated (this is called the natural history of a condition) over 5 years. Other aims are to learn what can predict the AATD-liver condition starting and getting better or worse, describe how this condition is currently being diagnosed and watched in normal hospital care, and describe how the AATD also affects and adult's lung function.

Data in this study will be collected to include medical history of a participant, including the date AATD was first identified and/or the date on which the first AATD-related liver or lung problems were diagnosed. At study start and then every year until study end, participants will be asked to completed questionnaires (called patient-reported outcomes or PRO).

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Detailed Description

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Conditions

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Alpha1-Antitrypsin Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Cohort 1: AATD-Pi*ZZ Genotype/Phenotype

Participants who have been diagnosed with Alpha-1 Antitrypsin Deficiency homozygote ZZ (AATD-Pi\*ZZ) genotype/phenotype with mild or without liver disease manifestations will be enrolled and data will be prospectively collected per routine care throughout the follow-up period.

No Intervention

Intervention Type OTHER

This is a non-interventional study.

Cohort 2: AATD-Pi*SZ Genotype/Phenotype

Participants who have been diagnosed with alpha-1 antitrypsin deficiency heterozygous SZ (AATD-Pi\*SZ) genotype/phenotype with moderate-advanced or severe liver disease manifestations will be enrolled and data will be prospectively collected per routine care throughout the follow-up period.

No Intervention

Intervention Type OTHER

This is a non-interventional study.

Interventions

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No Intervention

This is a non-interventional study.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

Participants who meet all the following criteria will be included in the study.

Cohorts 1 and 2:

1. Willing to provide written informed consent or currently enrolled in an ongoing participating AATD patient registry that does not require reconsenting to participate in the study.
2. \>=18 years of age at enrollment in this study.
3. Participants with documented diagnosis of AATD, meeting the following criteria:

1. Cohort 1 (AATD-Pi\*ZZ genotype/phenotype).

• Pi\*ZZ genotype as documented from rapid genetic assay, sequencing, or polymerase chain reaction (PCR), or Pi\*ZZ phenotype as documented from iso-electric focusing (IEF) electrophoresis.
2. Cohort 2 (AATD-Pi\*SZ genotype/phenotype with liver disease manifestation).

* Pi\*SZ genotype as documented from rapid genetic assay, sequencing, or PCR, or Pi\*SZ phenotype as documented from IEF electrophoresis, and
* Moderate-advanced or severe liver disease manifestation as defined by either liver biopsy or surrogate laboratory or imaging measures, as determined through:

* Lab and imaging measures to define liver disease manifestation

Exclusion Criteria

Participants who meet any following criteria will be excluded from the study.

1. Documented AATD genotype/phenotype other than Pi\*ZZ or Pi\*SZ.
2. History of liver transplant.
3. No results for either biopsies, magnetic resonance elastography (MRE), fibro scan (vibration controlled transient elastography \[VCTE\]), or Aspartate aminotransferase to platelet ratio index (APRI) in the 24 months prior to the index/enrollment date and has none of these tests ordered during the index period.
4. Participants who had previously been treated or in an active participation in an interventional trial studying liver or lung disease.
5. Treatment with liver directed AATD investigational therapy as part of a compassionate use request.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No