Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease

NCT06539624 | Recruiting

• 1 other identifier: EXG110-011
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 2

Brief Summary

Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• Incidence and severity of adverse events

  Safety and tolerability of EXG110 following a single IV dose, as assessed by incidence and severity of adverse events, serious adverse events and dose limiting toxicities, including clinically significant changes from baseline to scheduled time points in safety parameters

  52 weeks following EXG110 administration

Secondary Outcomes (5)

• eGFR change from baseline in mL/min/(1.73m^2);

  52 weeks following EXG110 administration

• NYHA cardiac function grade changed from baseline;

  52 weeks following EXG110 administration

• Changed from baseline: region and area in mm^2 of skin angiokeratoma The number of Gb3 deposition in skin biopsy under the microscope

  52 weeks following EXG110 administration

• Change from baseline in serum AGA activity

  52 weeks following EXG110 administration

• Change from baseline serum lysoGb3

  52 weeks following EXG110 administration

Study Arms (4)

Dose escalation-Cohort 1

EXPERIMENTAL

Genetic : EXG110

Genetic: EXG110 injection

Dose escalation-Cohort 2

EXPERIMENTAL

Genetic : EXG110

Genetic: EXG110 injection

Dose escalation-Cohort 3

EXPERIMENTAL

Genetic : EXG110

Genetic: EXG110 injection

Dose escalation-Cohort 4

EXPERIMENTAL

Genetic : EXG110

Genetic: EXG110 injection

Interventions

EXG110 injection GENETIC

EXG110 is a recombinant adeno-associated virus (rAAV) that not only significantly increases plasma AGA activity, but is also highly expressed in target organs such as the heart and kidneys.EXG110 will be administered in a single dose by intravenous infusion.

Dose escalation-Cohort 1; Dose escalation-Cohort 2; Dose escalation-Cohort 3; Dose escalation-Cohort 4

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• At the time of signing the informed consent, age ≥7, male or female
• Clinical symptoms (at least one Fabry disease related symptom) and genetic diagnosis of Fabry disease,
• Prior or no prior ERT treatment
• Have renal or cardiac involvement (adults only)
• All subjects of reproductive age voluntarily took effective contraception and prohibited sperm donation from entering the screening period until 52 weeks after dosing (main study period)
• The subjects voluntarily participate and are fully informed, fully understand the research, can comply with the requirements of the research protocol, and are willing to complete the research as planned, and voluntarily provide biological samples for testing according to the requirements of the protocol

You may not qualify if:

• Screening period laboratory test results: a) aspartate aminotransferase or alanine aminotransferase \> 1.5× upper limit of normal (ULN);b) Total bilirubin \> 1.5× upper limit of normal (ULN);c) Alkaline phosphatase \> 2× upper limit of normal (ULN);d) Albumin \< lower limit of normal (LLN)
• There was a clinically significant increase in AFP during the screening period
• Serum virology test: a) Hepatitis B: Hepatitis B virus surface antigen (HBsAg) positive, and hepatitis B virus-deoxyribonucleic acid (HBV-DNA) higher than the upper limit of normal detection;b) Hepatitis C: if the hepatitis C virus (HCV) antibody is positive, and the hepatitis C virus-ribonucleic acid (HCV-RNA) is higher than the upper limit of normal test value;c) Syphilis: positive for syphilis screening (Tp-Ab) and positive for syphile-specific antibodies;d) HIV: Known human immunodeficiency virus (HIV) positive history or HIV screening positive
• AVT917 (\>1:50), anti-AGA antibody positive(\>1:2560)
• C3 lower than the normal range, C5b-9 higher than the normal range, anti-AVT917 IgM positive
• Current or have a history of serious cardiovascular disease and surgical history
• Current underlying liver disease or history of liver disease, as assessed by the investigator, that may affect the safety assessment of the drug
• Renal disease in adult and the slope of kidney \>5 mL/min/1.73m²/year
• Subjects with poorly controlled diabetes after drug treatment (e.g., HbA1c≥8%);
• Acute/chronic infection or other chronic disease that the investigator determines will increase the risk of participants participating in the study
• Patients with a history of malignant tumor or currently suffering from any malignant tumor (except for the following tumor diseases: skin basal cell carcinoma, cervical carcinoma in situ, breast carcinoma in situ, skin squamous cell carcinoma has been controlled after treatment);
• Have malignancy cancer
• Patients with active autoimmune diseases (such as rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, immune vasculitis, inflammatory bowel disease, etc.);
• known history of allergy to the components of the investigational products
• Patients with a history of drug use or drug abuse or alcoholism

Sponsors & Collaborators

• The Children's Hospital of Zhejiang University School of Medicine: lead

Study Sites (2)

Shanghai Children's Medical Center

Shanghai, Shanghai Municipality, China

RECRUITING

Children's Hospital, Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Jianhua Mao, PhD

  Children's Hospital, Zhejiang University School of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jianhua Mao, PhD

CONTACT

13516819071; maojh88@zju.edu.cn

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Vice President of the hospital

Study Record Dates

• First Submitted: July 29, 2024
• First Posted: August 6, 2024
• Study Start: October 16, 2024
• Primary Completion (Estimated): April 9, 2027
• Study Completion (Estimated): April 9, 2027
• Last Updated: February 27, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

CN (2)