The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease

NCT06819514 | Not Yet Recruiting Phase 1 DMC

• 1 other identifier: EXG110-111
• Study Type: interventional
• Target: 16
• Locations: 1 country
• Sites: 3

Brief Summary

A phase 1/2, multicenter, open-label, Dose-escalation study to evaluate the safety and efficacy of intravenous EXG110 in patients with Fabry disease

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (5)

• Phase 1: To evaluate the safety and tolerability of EXG110 following a single intravenous infusion

  Adverse events (AEs), serious adverse events (SAEs), dose-limited toxicity types, severity, incidence,

  52 weeks

• Phase 2: The changes from the baseline of kidney function

  Proportion of participants with a reduction in Gb3 inclusion body accumulation to scores 0 (the minimum values are 0 scores, the maximum values are 3, higher scores mean a worse outcome ) on renal interstitial capillary biopsy as determined by light microscopy.

  6 months

• Phase 2: The changes from the baseline of cardiac function

  The change of LVMI (left ventricular mass index，g/m\^2) from the baseline

  6 months

• Phase 2: The changes from the baseline of pain

  The scores changes of BPI (The Brief Pain Inventory, short form) from the baseline, each iteam is scored on a 0-10 scale, with higher scores indicating greater severity.

  6 months

• Phase 2: The changes from the baseline of gastrointestinal function

  The scores changes of GSRS (Gastrointestinal Symptom Rating Scale) from the baseline the minimum values are 0 scores, the maximum values are 35, higher scores mean a worse outcome

  6 months

Secondary Outcomes (2)

• eGFR

  52 weeks

• Cardiac function

  52 weeks

Study Arms (2)

Low dose arm

EXPERIMENTAL

EXG110 injection, use once by intravenous

Drug: EXG110 Injection

High dose arm

EXPERIMENTAL

EXG110 injection, use once by intravenous

Drug: EXG110 Injection

Interventions

EXG110 Injection DRUG

EXG110 Injection is gene therapy for Fabry Disease , uses a proprietary AAV capsid with improved liver and muscle specificity.

High dose arm; Low dose arm

Eligibility Criteria

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

You may qualify if:

• Age ≥18 years old, 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
• The participant voluntarily participate and are fully informed, fully understood the study, can comply with the requirements of the protocol, 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) Hypoalbuminemia ≥ grade 2
• 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
• 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 product
• Acute/chronic infection or other chronic disease that the investigator evaluated will increase the risk of participants in the study
• Those who have a history of epilepsy, mental illness (such as schizophrenia, depression, mania or anxiety, etc.) or obvious mental disorders, and are incapacitated or cognitively incapacitated due to other reasons.
• Participant 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);
• Participant 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
• Participant with a history of drug use or drug abuse or alcoholism
• Has received, or currently receiving, a clinical trial of another investigational drug/medical device or treatment (other than vitamins and minerals) within 3 months prior to signing the informed consent form (or within 5 half-lives of the investigational drug, whichever is longer)
• Previous treatment with gene therapy products
• Those who had received live attenuated vaccine/vaccine within 12 weeks prior to screening or planned to receive it during the study
• Other clinical conditions that the investigators evaluated needed to be excluded

Sponsors & Collaborators

• Hangzhou Jiayin Biotech Ltd: lead

Study Sites (3)

General Hospital of Eastern Theater Command

Nanjing, Jiangsu, China

Location

Children's Hospital Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

Location

First Affiliated Hospital of Zhejiang University

Hangzhou, Zhejiang, China

Location

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

• Zhihong Liu, MD

  The General Hospital of Eastern Theater Command

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Zhihong Liu, MD

CONTACT

+86 137 0158 9469; chenpl166@163.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 22, 2025
• First Posted: February 11, 2025
• Study Start: March 1, 2025
• Primary Completion (Estimated): March 15, 2028
• Study Completion (Estimated): March 15, 2028
• Last Updated: February 11, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

CN (3)