ClinicaliQ Trial Snapshot
- A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems — Recruiting • Respiratory / COPD / Asthma • NCT06512454.
- What is being tested: A study evaluating the pathophysiology of inherited alpha-1 antitrypsin deficiency (AATD), specifically how abnormal Z-AAT protein accumulates in liver cells and causes low serum AAT levels, leading to liver and lung disease.
- Patient eligibility overview: Adults with genetically confirmed AATD (particularly those with Z-AAT variants) and evidence of AATD-related liver disease; participants must have sufficient hepatic function to safely participate in the research protocol.
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What This Trial Is Studying
The liver produces a protein called alpha-1 antitrypsin (AAT). AAT is normally released into the bloodstream. In some people, the liver makes an abnormal version of AAT, called Z-AAT. Z-AAT builds up in liver cells and also leads to low blood levels of AAT (called Alpha-1 Antitrypsin Deficiency or AATD). Over time, this build up leads to different stages of liver problems, if not treated. This is called natural history of AATD. The main aim of this study is to learn about liver problems caused by AATD in adults when…
Eligibility Snapshot
- : Participants who meet all the following criteria will be included in the study. Cohorts 1 and 2: 1. Willing to provide written informed consent to participate in the study. 2. >=18 years of age at enrollment in this study.
- 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.
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.