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

Description

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).

Conditions

Alpha1-Antitrypsin Deficiency

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Study Overview

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Study Details

Study overview

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).

Prospective Observational Study on the Natural History of Alpha-1 Antitrypsin Deficiency and Associated Liver Disease

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

Condition
Alpha1-Antitrypsin Deficiency
Intervention / Treatment

-

Contacts and Locations

Gainesville

University of Florida, Gainesville, Florida, United States, 32611

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 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).
  • 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 measures, as determined through:
  • * Lab and imaging measures to define liver disease manifestation
  • 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 study baseline date, and has none of these tests ordered in the current visit that will be available in the next 90 days.
  • 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.

Ages Eligible for Study

18 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Takeda,

Study Director, STUDY_DIRECTOR, Takeda

Study Record Dates

2032-04-06