NCT05932914

Brief 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 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.

Trial Health

63
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
8

participants targeted

Target at below P25 for all trials

Timeline
45mo left

Started May 2026

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 27, 2023

Completed
9 days until next milestone

First Posted

Study publicly available on registry

July 6, 2023

Completed
2.8 years until next milestone

Study Start

First participant enrolled

May 1, 2026

Completed
3.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2030

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2030

Last Updated

April 8, 2026

Status Verified

April 1, 2026

Enrollment Period

3.7 years

First QC Date

June 27, 2023

Last Update Submit

April 7, 2026

Conditions

Hemophilia BHemophilia A

Keywords

AAV-mediated factor VIII (FVIII) gene transferAAV-mediated factor IX (FIX) gene transferGene TherapyHemophilia AHemophilia BTransjugular liver biopsy

Outcome Measures

Primary Outcomes (1)

  • Assessment of the number of hepatocytes transduced with AAV vector genome in liver biopsy samples analyzed by FISH

    Fluorescence in situ hybridization (FISH)

    single time point (day of biopsy)

Secondary Outcomes (5)

  • The degree of hepatocyte damage at a morphological level

    single time point (day of biopsy)

  • The number and type of hot spots for integration of AAV provirus in liver cells

    single time point (day of biopsy)

  • The number of hepatocytes revealing FVIII/FIX RNA in-situ transcripts

    single time point (day of biopsy)

  • The number and types of epigenetic changes within the AAV genome in the liver

    single time point (day of biopsy)

  • The qualitative and quantitative assessment of the RNA transcriptome

    single time point (day of biopsy)

Study Arms (1)

Participants

Those who meet the Eligibility Criteria

Procedure: Liver Biopsy

Interventions

Liver BiopsyPROCEDURE

Standard transjugular liver biopsy under moderate sedation

Participants

Eligibility Criteria

Age18 Years - 80 Years
Sexmale
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Those who meet the Eligibility Criteria.

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Related Links

MeSH Terms

Conditions

Hemophilia AHemophilia B

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, InheritedBlood Coagulation DisordersHematologic DiseasesHemic and Lymphatic DiseasesCoagulation Protein DisordersHemorrhagic DisordersGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, X-Linked

Study Officials

  • Ulrike Reiss, MD

    St. Jude Children's Research Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Ulrike Reiss, MD

CONTACT

866-278-5833referralinfo@stjude.org

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 27, 2023

First Posted

July 6, 2023

Study Start

May 1, 2026

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2030

Last Updated

April 8, 2026

Record last verified: 2026-04

Locations

US(1)