Alpha-1 Antitrypsin Deficiency Adult Liver Study
Running, not enrolling
Conditions studied: Alpha-1 Antitrypsin Deficiency
In brief
The investigators hypothesize that there is liver injury (inflammation, fibrosis, cirrhosis) in adults with Alpha-1 Antitrypsin Deficiency (AATD), which is asymptomatic, under-recognized, and undiagnosed. In addition, the investigators believe that the genetic and environmental factors that play an important role in the development of alpha-1 antitrypsin (AAT) liver disease, can be identified by comparing a cohort database of clinical disease information to linked biospecimen and DNA samples.
Key facts
- Study ID
- NCT02014415
- Run by
- St. Louis University
- People needed
- 120
- Starts
- 2013-12-01
- Expected to finish
- 2027-12-01
- Last updated by the study team
- 2026-04-27
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Adults (≥ 18 years of age), with Alpha-1 Antitrypsin Deficiency
- Documented evidence Pi-ZZ phenotype or genotype
- Both genders, all races and ethnic groups
- Willingness to be followed for up to 5 years
You may not qualify if…
- Evidence of advanced liver disease defined by Child-Pugh Class B or C (score ≥ 7)
- Known advanced lung disease defined as forced expiratory volume at one second (FEV1) < 40 % of Predicted
- History of Organ Transplantation
- Known congenital or metabolic liver disease (e.g.: Wilson's, glycogen storage, cystic fibrosis)or iron overload as evidenced by ≥ Grade 3 iron staining on a previous liver biopsy
- Evidence of chronic hepatitis B (marked by the presence of HBsAg in serum) or Hepatitis C (marked by the presence of anti-hepatitis C virus (HCV) or HCV RNA in serum)
- Vascular disorders of the liver (e.g.: cardiac sclerosis, acute or chronic Budd-Chiari, hepatoportal sclerosis, peliosis)
- Known HIV positivity
- Diagnosis of malignancy within the last 5 years
- Active substance abuse, that in the opinion of the study investigator, would interfere with adherence to study requirements
- Concomitant severe underlying systemic illness or medical condition which in the opinion of the investigator, would make the patient unsuitable for the study or would interfere with completion of follow-up
- Inability to comply with the longitudinal follow-up as outlined in the protocol
- Failure of the participant to sign informed consent or Health Insurance Portability and Accountability Act (HIPAA) documents
- Known Severe Liver Disease Group:
- Inclusion Criteria
- Adults (≥ 18 years of age), with alpha-1-antitrypsin deficiency
- Documented evidence PI-ZZ phenotype or genotype
- Documented evidence of portal hypertension or evidence of advanced liver disease defined by Child-Pugh Class B or C (score ≥ 7), or previous liver biopsy with an Ishak Fibrosis Score ≥ 4
- Both genders, all races and ethnic groups
- Willingness to be followed for up to 5 years
- Exclusion Criteria
- History of Organ Transplantation
- Known congenital or metabolic liver disease (e.g.: Wilson's, glycogen storage, cystic fibrosis) and iron overload as evidenced by ≥ Grade 3 iron staining on a previous liver biopsy
- Evidence of chronic hepatitis B (marked by the presence of HBsAg in serum) or Hepatitis C (marked by the presence of anti-HCV or HCV RNA in serum)
- Vascular disorders of the liver (e.g.: cardiac sclerosis, acute or chronic Budd-Chiari, hepatoportal sclerosis, peliosis)
- Known HIV positivity
Where it is running
- University of California — San Diego, California, United States
- Boston University School of Medicine — Boston, Massachusetts, United States
- Saint Louis University — St Louis, Missouri, United States
Full record on ClinicalTrials.gov
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