Phase
Condition
N/ATreatment
No Intervention
Clinical Study ID
Ages > 18 All Genders
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
Participants who meet all the following criteria will be included in the study.
Cohorts 1 and 2:
Willing to provide written informed consent or currently enrolled in an ongoingparticipating AATD patient registry that does not require reconsenting toparticipate in the study.
>=18 years of age at enrollment in this study.
Participants with documented diagnosis of AATD, meeting the following criteria:
Cohort 1 (AATD-PiZZ genotype/phenotype). • PiZZ genotype as documented from rapid genetic assay, sequencing, orpolymerase chain reaction (PCR), or Pi*ZZ phenotype as documented fromiso-electric focusing (IEF) electrophoresis.
Cohort 2 (AATD-Pi*SZ genotype/phenotype with liver disease manifestation).
- PiSZ genotype as documented from rapid genetic assay, sequencing, or PCR,or PiSZ phenotype as documented from IEF electrophoresis, and
- Moderate-advanced or severe liver disease manifestation as defined byeither liver biopsy or surrogate laboratory or imaging measures, asdetermined through:
- Lab and imaging measures to define liver disease manifestation
Exclusion
Exclusion Criteria:
Participants who meet any following criteria will be excluded from the study.
Documented AATD genotype/phenotype other than PiZZ or PiSZ.
History of liver transplant.
No results for either biopsies, magnetic resonance elastography (MRE), fibro scan (vibration controlled transient elastography [VCTE]), or Aspartate aminotransferaseto platelet ratio index (APRI) in the 24 months prior to the index/enrollment dateand has none of these tests ordered during the index period.
Participants who had previously been treated or in an active participation in aninterventional trial studying liver or lung disease.
Treatment with liver directed AATD investigational therapy as part of acompassionate use request.
Study Design
Connect with a study center
Universitätsklinikum Aachen AöR
Aachen, North Rhine-Westphalia 52074
GermanySite Not Available
Universitätsklinikum Aachen AöR
Aachen 3247449, North Rhine-Westphalia 2861876 52074
GermanyActive - Recruiting
University of Florida
Gainesville, Florida 32611
United StatesSite Not Available
University of Florida
Gainesville 4156404, Florida 4155751 32611
United StatesActive - Recruiting

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