Dissecting the Genetic and Environmental Contributions of Autoimmune Liver Disease: Genetic Repository of Autoimmune Liver Disease and Contributing Exposures (GRACE)Study
Craig Lammert, MD
Primary Investigator
Brief description of study
Detailed description of study
- Interested participants with autoimmune liver diseases will have one study visit lasting about two hours. Approximately 50mL of blood will be drawn for blood banking and future research.
- Subjects will be asked to complete six questionnaires relating to caffeine consumption, medications being taken, and quality of life and demographics. Subjects will be given a stool collection kit as well as collection and mailing instructions.
- Finally, subjects will undergo transient elastography via FibroScan ®. Transient elastography is a painless, non-invasive, FDA approved method to measure scarring and steatosis of the liver.
- Subjects who are newly diagnosed with autoimmune liver disease and who are treatment naïve will have an additional 25mL (for a total of 75mL) of blood drawn for additional testing.
- On an annual basis indefinitely, the Promis 29 survey, one of the quality of life questionnaires, will be administered to participants. This can be done in via mail or email or in person when the participant returns to an IU Health facility for care.
- For participants who are already enrolled in this study Prior to R004, the Promis 29 quality of life questionnaire and demographics questionnaire will be mailed to the address of record. A self-address stamped envelope and explanatory letter will also be included with instructions for the participant to mail the complete questionnaire. Participants will complete this questionnaire indefinitely for as long as they are willing.
- Conference attendees who are less than 18 years old who agree to participate in the study will be asked to provide a 5mL saliva sample and to complete three study questionnaires relating to quality of life and caffeine consumption. They will also undergo transient elastography via FibroScan ®.
- Total participation should last less than one hour.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Autoimmune liver disease, Autoimmune hepatitis (AIH), Overlap AIH with Primary Biliary Cirrhosis (AIH-PBC), overlap AIH with Primary Sclerosing Cholangitis (AIH-PSC), Drug-induced autoimmune-like hepatitis (DIAIH), Riley
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Age: 7 years or above
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Gender: All
Inclusion criteria for AIH patients:
- Male and Female patients ages ≥ 7 years old.
- Diagnosis of probable AIH on the pretreatment score as defined by the International Autoimmune Hepatitis Group (IAIHG) revised criteria22 or
- Diagnosis of probable AIH confirmed by the IAIHG Simplified Criteria for the Diagnosis of Autoimmune Hepatitis score 23
Inclusion criteria for AIH-PBC patients:
- Male and Female patients ages ≥ 7 years old.
- Diagnosis of AIH-PBC overlap syndrome defined by the association of PBC24 and probable AIH22, 23 either simultaneously or consecutively.
Inclusion criteria for AIH-PSC patients:
- Male and Female patients ages ≥ 7 years old.
- Diagnosis of AIH-PSC overlap syndrome defined by association of PSC25 and probable AIH22, 23 either simultaneously or consecutively
Inclusion criteria for DIAIH patients:
- Male and Female patients ages ≥ 7 years old.
- Diagnosis of probable AIH on the pretreatment score as defined by the International Autoimmune Hepatitis Group (IAIHG) revised criteria22 or
- Diagnosis of probable AIH confirmed by the IAIHG Simplified Criteria for the Diagnosis of Autoimmune Hepatitis score 23
- Presence of a suspicion of drug etiology in triggering an AIH clinical picture.
Inclusion criteria for Control patients:
- Male and Female patients ages ≥ 7 years old.
- No evidence, history or diagnosis of a chronic liver disease in medical history
Exclusion criteria for all AIH, overlap, DIAIH patients, and controls:
- Prisoners and institutionalized individuals
- Patients unable to provide consent
