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

Phase 1

Not yet recruiting

• Conditions: Fabry Disease
• Interventions: Drug: EXG110 Injection

• Registration Number: NCT06819514
• Lead Sponsor: Hangzhou Jiayin Biotech Ltd

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

Detailed Description

Phase 1: Dose -escalation，2 Groups Phase 2: Dose- expansion，1 Group

Study Timeline

• Study First Submitted: 2025-01-22
• Status Verified: 2025-02
• Study First Submitted QC: 2025-02-10
• Last Update Submitted: 2025-02-10
• Study First Posted: 2025-02-11
• Last Update Posted: 2025-02-11
• Study Start: 2025-03-01
• Primary Completion: 2028-03-15
• Study Completion: 2028-03-15

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 16

Inclusion Criteria

1. Age ≥18 years old, male or female
2. Clinical symptoms (at least one Fabry disease related symptom) and genetic diagnosis of Fabry disease
3. Prior or no prior ERT treatment
4. Have renal or cardiac involvement
5. 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

Exclusion Criteria

1. 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
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
3. Current or have a history of serious cardiovascular disease and surgical history
4. Current underlying liver disease or history of liver disease, as assessed by the investigator, that may affect the safety assessment of the product
5. Acute/chronic infection or other chronic disease that the investigator evaluated will increase the risk of participants in the study
6. 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.
7. 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);
8. Participant with active autoimmune diseases (such as rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, immune vasculitis, inflammatory bowel disease, etc.);
9. known history of allergy to the components of the investigational products
10. Participant with a history of drug use or drug abuse or alcoholism
11. 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)
12. Previous treatment with gene therapy products
13. Those who had received live attenuated vaccine/vaccine within 12 weeks prior to screening or planned to receive it during the study
14. Other clinical conditions that the investigators evaluated needed to be excluded

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SEQUENTIAL

Arm && Interventions

Group	Intervention	Description
High dose arm	EXG110 Injection	EXG110 injection, use once by intravenous
Low dose arm	EXG110 Injection	EXG110 injection, use once by intravenous

Primary Outcome Measures

Name	Time	Method
Phase 1: To evaluate the safety and tolerability of EXG110 following a single intravenous infusion	52 weeks	Adverse events (AEs), serious adverse events (SAEs), dose-limited toxicity types, severity, incidence,
Phase 2: The changes from the baseline of kidney function	6 months	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.
Phase 2: The changes from the baseline of pain	6 months	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.
Phase 2: The changes from the baseline of cardiac function	6 months	The change of LVMI (left ventricular mass index，g/m\^2) from the baseline
Phase 2: The changes from the baseline of gastrointestinal function	6 months	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

Secondary Outcome Measures

Name	Time	Method
eGFR	52 weeks	eGFR change from baseline in mL/min/(1.73m\^2)
Cardiac function	52 weeks	LVMI change from baseline

Trial Locations

Locations (3)

General Hospital of Eastern Theater Command; 🇨🇳 Nanjing, Jiangsu, China

Children's Hospital Zhejiang University School of Medicine; 🇨🇳 Hangzhou, Zhejiang, China

First Affiliated Hospital of Zhejiang University; 🇨🇳 Hangzhou, Zhejiang, China