This protocol is a screening study rather than a treatment study: its purpose is to identify and screen potential candidates for future enrollment in a gene therapy clinical trial for homozygous familial hypercholesterolemia (HoFH). Participation requires being aged 18 or older, having a clinical presentation consistent with homozygous FH, and being able to understand and sign an IRB-approved informed consent form. People known to carry certain confirmed mutations in genes affecting the LDL receptor are excluded.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * Males and females ≥ 18 years of age * Clinical presentation consistent with homozygous FH * Subjects must be able to comprehend and willing to provide a signed IRB approved Informed Consent Form Exclusion Criteria: * Known to carry confirmed mutations in genes affecting LDL receptor functionality other than the LDLR gene * History of cirrhosis based on documented histological evaluation or non-invasive imaging * Documented diagnosis of any of the following liver diseases: Hepatitis B or C; Biopsy-proven nonalcoholic steatohepatitis; Biopsy-proven alcoholic liver disease; Autoimmune hepatitis; Primary biliary cirrhosis; Primary sclerosing cholangitis; Wilson's disease; Hemochromatosis; alpha1 anti-trypsin deficiency * History of immunodeficiency diseases, including a positive HIV test result * Previous organ transplantation * Serious or unstable medical or psychological conditions that, in the opinion of the investigator, would compromise the subject's safety or successful participation in the study * Inability to participate