Hemophilia ANCT05932914
Liver Biopsy Following Gene Therapy For Hemophilia
An observational study of Hemophilia A and Hemophilia B, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial summary
This observational study will obtain liver biopsy samples and evaluate the long-term effect of adeno-associated virus (AAV)-mediated gene therapy on the liver tissue in adult patients with hemophilia A or hemophilia B who have previously been treated with a factor VIII or factor IX gene-containing AAV-vector for… Read more about this study
- Who is it for?
- Ages 18 to 80 years, men only
- Conditions the study is for
- Hemophilia A, Hemophilia B
- What is being tested?
- Liver Biopsy
- Type of treatment
- Surgery or procedure
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2026to Jan 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- Men only
- No healthy volunteers
- Adult, Older adult
Study population: Those who meet the Eligibility Criteria.
Who may be able to join
- Age ≥18 to 80 years
- Patients, who were enrolled and treated in one of the following clinical trials:
- AGT4HB (EudraCT number: 2005-005711-17; NCT00979238) - FIX AAV gene therapy trial (sponsor: St. Jude Children's Research Hospital)
- GO8 (EudraCT number:2014-003880-38; NCT02576795) - FVIII AAV gene therapy trial (sponsor: University College, London)
- Able to give informed consent
- Able to comply with study requirements
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- Exclusion Criteria (Do not apply to participants who will not undergo liver biopsy, and have leftover liver tissue from a previous biopsy procedure, because all exclusion criteria only cover the safety considerations for the biopsy procedure.):
- Any condition that, in the opinion of the investigator or sponsor of the ongoing clinical trial in which the patient is participating in, would prevent the patient from fully complying with the requirements of the clinical trial and/or would influence or interfere with evaluation and interpretation of subject safety or efficacy result of that ongoing clinical trial
- Platelet count <140x10^9/L
- INR >1.5
- Abnormal kidney function with estimated GFR <50 mL/min (calculated using the CKD-EPI equation)
- Known allergy to iodine-based intravenous contrast agents
- Known allergy to local or general anesthetics
- Known allergic reaction to FVIII/FIX concentrate infusions
- Presence of FVIII inhibitor or FIX inhibitor (historical result can be used if done within 14 weeks of this liver biopsy)
- Evidence of any bleeding disorder other than hemophilia A or B
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Ulrike Reiss, MD, 888-226-4343, referralinfo@stjude.org
About this study
This observational study will obtain liver biopsy samples and evaluate the long-term effect of adeno-associated virus (AAV)-mediated gene therapy on the liver tissue in adult patients with hemophilia A or hemophilia B who have previously been treated with a factor VIII or factor IX gene-containing AAV-vector for liver-targeted gene transfer. Participants are from a cohort of patients treated with AAV-mediated gene transfer and at least 6 months after vector infusion.
Read the detailed description
This is a prospective cohort study evaluating the effect of AAV-mediated gene therapy on the liver in adult patients with hemophilia A or hemophilia B who have previously been treated with a FVIII/FIX gene-containing AAV-vector for liver-targeted gene transfer.
To better understand the effect of AAV-mediated gene transfer on the liver, eligible participants can allow the use and analysis of already existing liver tissue samples, taken and preserved after having received gene therapy. Alternatively, eligible participants can consent to providing a new liver tissue sample which will be obtained by undergoing a standard transjugular liver biopsy (TJLB) procedure under moderate sedation. . The procedure will be done as outpatient (day 1) with post procedure follow-up on day 2, 3, 4 and 14.
- Conditions
- Hemophilia A, Hemophilia B
- Being tested
- Liver Biopsy
- Keywords
- AAV-mediated factor VIII (FVIII) gene transfer, AAV-mediated factor IX (FIX) gene transfer, Gene Therapy, Hemophilia A, Hemophilia B, Transjugular liver biopsy
- Medical subject headings
- Hemophilia A, Hemophilia B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Liver BiopsyProcedure or surgery
Standard transjugular liver biopsy under moderate sedation
| Study group | Role | What they receive |
|---|---|---|
| Participants | Those who meet the Eligibility Criteria Receives: Procedure: Liver Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of the number of hepatocytes transduced with AAV vector genome in liver biopsy samples analyzed by FISH
Fluorescence in situ hybridization (FISH)
Measured: single time point (day of biopsy)
Secondary outcomes (5)
The degree of hepatocyte damage at a morphological level
Standard and immunohistochemical tissue staining
Measured: single time point (day of biopsy)
The number and type of hot spots for integration of AAV provirus in liver cells
DNA sequencing
Measured: single time point (day of biopsy)
The number of hepatocytes revealing FVIII/FIX RNA in-situ transcripts
Assessment of RNA in-situ transcripts
Measured: single time point (day of biopsy)
The number and types of epigenetic changes within the AAV genome in the liver
DNA methylation analysis and histone association studies
Measured: single time point (day of biopsy)
The qualitative and quantitative assessment of the RNA transcriptome
Assessment of RNA transcriptome
Measured: single time point (day of biopsy)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2023
- Study startNov 2026 (estimated)
- Primary completionJan 2030 (estimated)
- Study completionJan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hemophilia AStudies of the same condition, open and under way.
- More trials run by St. Jude Children's Research HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 8 participants (estimated)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Methodist University Hospital
- Responsible party
- Sponsor
- Investigators
- Ulrike Reiss, MD, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05932914
- Sponsor's protocol ID
- LIVBX
- Status last verified
- Oct 2026
- First submitted
- 27 Jun 2023
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No