Understanding liver problems in adults with Alpha-1 Antitrypsin Deficiency
Prospective Observational Study on the Natural History of Alpha-1 Antitrypsin Deficiency and Associated Liver Disease
This study looks at how liver problems develop over time in adults with Alpha-1 Antitrypsin Deficiency to better understand their health and improve treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Takeda Industry-sponsored |
| Locations | 2 sites (Gainesville, Florida and 1 other locations) |
| Trial ID | NCT06512454 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the natural history of liver problems associated with Alpha-1 Antitrypsin Deficiency (AATD) in adults over a five-year period. It will collect data on participants' medical histories, including the onset of AATD and related liver or lung issues. Participants will complete annual questionnaires to report their health outcomes, which will help identify predictors of disease progression and current diagnostic practices in clinical settings.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with a documented diagnosis of AATD, specifically those with Pi*ZZ or Pi*SZ genotypes.
Not a fit: Patients without a confirmed diagnosis of AATD or those with mild liver disease manifestations may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of AATD-related liver conditions, leading to improved management and treatment strategies for affected patients.
How similar studies have performed: While there have been studies on AATD, this specific observational approach focusing on the natural history of liver problems is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Gainesville, Florida and 1 other locations
- University of Florida — Gainesville, Florida, United States (Recruiting)
- Universitätsklinikum Aachen AöR — Aachen, North Rhine-Westphalia, Germany (Recruiting)
Study contacts
- Study coordinator: Takeda Contact
- Email: medinfoUS@takeda.com
- Phone: +1-877-825-3327
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.