Fabry DiseaseNCT06539624
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
A study testing EXG110 injection in people with Fabry Disease, run by The Children's Hospital of Zhejiang University School of Medicine at 2 sites in China.
Trial summary
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- EXG110 injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- 2 sitesChina
- Study dates
- 16 Oct 2024to 9 Apr 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Show all 21Show fewer
- 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
- Use of systemic (intravenous or oral) immunomodulators within the past 6 months or currently
- Initiation of treatment with blood pressure lowering drugs that affect proteinuria levels (such as angiotensin-converting enzyme inhibitors, angiotensin-receptor blockers, or angiotensin-receptor/enkephalin inhibitors) within 4 weeks prior to screening, or changes in the therapeutic dose of these drugs within 4 weeks prior to screening;
- Has received, or is 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 (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 felt needed to be ruled out
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
China2 sites, 2 recruiting
- Recruiting
Children's Hospital, Zhejiang University School of Medicine
Hangzhou, Zhejiang
Mao Jianhua, MD, 13616819071, maojh88@zju.edu.cn
- Recruiting
Shanghai Children's Medical Center
Shanghai, Shanghai Municipality
Lei Yin, PhD, 13641673203, yinlei@scmc.com.cn
Lei Yin, PhD
About this study
Official title: A Multicenter, Non-randomized, Open-label, Dose-finding Study to Evaluate the Safety and Preliminary Efficacy of Gene Therapy With EXG110 in Subjects With Fabry Disease
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
Read the detailed description
An open-label, multicenter, single-arm, non-randomized, dose-escalation, and recommended dose-extension clinical design was used to evaluate the safety and efficacy of a single intravenous administration of different doses of EXG110 in patients
- Conditions
- Fabry Disease
- Being tested
- EXG110 injection
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EXG110 injectionGenetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Dose escalation-Cohort 1 | Experimental | Genetic : EXG110 Receives: Genetic: EXG110 injection |
| Dose escalation-Cohort 2 | Experimental | Genetic : EXG110 Receives: Genetic: EXG110 injection |
| Dose escalation-Cohort 3 | Experimental | Genetic : EXG110 Receives: Genetic: EXG110 injection |
| Dose escalation-Cohort 4 | Experimental | Genetic : EXG110 Receives: Genetic: EXG110 injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 52 weeks following EXG110 administration
Secondary outcomes (5)
eGFR change from baseline in mL/min/(1.73m^2);
eGFR change from baseline in mL/min/(1.73m^2)
Measured: 52 weeks following EXG110 administration
NYHA cardiac function grade changed from baseline;
NYHA cardiac function grade changed from baseline;
Measured: 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
Changed from baseline: region and area in mm^2 of skin angiokeratoma The number of Gb3 deposition in skin biopsy under the microscope
Measured: 52 weeks following EXG110 administration
Change from baseline in serum AGA activity
Change from baseline in serum AGA activity
Measured: 52 weeks following EXG110 administration
Change from baseline serum lysoGb3
Change from baseline serum lysoGb3
Measured: 52 weeks following EXG110 administration
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2024
- Study start16 Oct 2024
- Primary completion9 Apr 2027 (estimated)
- Study completion9 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by The Children's Hospital of Zhejiang University School of MedicineThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mao Jianhua, The Children's Hospital of Zhejiang University School of Medicine
- Investigators
- Jianhua Mao, PhD, Principal investigator, The Children's Hospital of Zhejiang University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06539624
- Sponsor's protocol ID
- EXG110-011
- Status last verified
- Feb 2026
- First submitted
- 29 Jul 2024
- Last updated
- 27 Feb 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: All data generated in this study are the property of Guangzhou Jiayin and should be kept strictly confidential together with the information provided by Guangzhou Jiayin.Researchers or any of their staff are not permitted to independently analyze and/or publish these data without the prior written authorization of Guangzhou Jiain.
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Non-randomized, Open-label, Dose-finding Study to Evaluate the Safety and Preliminary Efficacy of Gene Therapy With EXG110 in Subjects With Fabry Disease
- ClinicalTrials.gov ID
- NCT06539624
- Acronym / sponsor ID
- EXG110-011
- Conditions
- Fabry Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 12 participants (estimated)
- Lead sponsor
- The Children's Hospital of Zhejiang University School of MedicineUniversity, hospital or other
- Study start
- 16 Oct 2024 (actual)
- Primary completion
- 9 Apr 2027 (estimated)
- Study completion
- 9 Apr 2027 (estimated)
- First posted
- 6 Aug 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
Detailed description
An open-label, multicenter, single-arm, non-randomized, dose-escalation, and recommended dose-extension clinical design was used to evaluate the safety and efficacy of a single intravenous administration of different doses of EXG110 in patients
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Dose escalation-Cohort 1 | Experimental | Genetic: EXG110 injectionGenetic : EXG110 |
| Dose escalation-Cohort 2 | Experimental | Genetic: EXG110 injectionGenetic : EXG110 |
| Dose escalation-Cohort 3 | Experimental | Genetic: EXG110 injectionGenetic : EXG110 |
| Dose escalation-Cohort 4 | Experimental | Genetic: EXG110 injectionGenetic : EXG110 |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- 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)
Key exclusion criteria (21 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| EXG110 injectionEXG110 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. | Genetic | Dose escalation-Cohort 1, Dose escalation-Cohort 2, Dose escalation-Cohort 3, Dose escalation-Cohort 4 |
Primary outcome
Incidence and severity of adverse events
Time frame: 52 weeks following EXG110 administration
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
5 secondary outcomes
eGFR change from baseline in mL/min/(1.73m^2);
Time frame: 52 weeks following EXG110 administration
NYHA cardiac function grade changed from baseline;
Time frame: 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
Time frame: 52 weeks following EXG110 administration
Change from baseline in serum AGA activity
Time frame: 52 weeks following EXG110 administration
Change from baseline serum lysoGb3
Time frame: 52 weeks following EXG110 administration
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2026.
- Individual participant dataSharing planned: No. All data generated in this study are the property of Guangzhou Jiayin and should be kept strictly confidential together with the information provided by Guangzhou Jiayin.Researchers or any of their staff are not permitted to independently analyze and/or publish these data without the prior written authorization of Guangzhou Jiain.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jianhua Mao, PhD principal investigator
The Children's Hospital of Zhejiang University School of Medicine
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing EXG110 injection in people with Fabry Disease, run by The Children's Hospital of Zhejiang University School of Medicine at 2 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 21 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jianhua Mao, PhD (13516819071, maojh88@zju.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence and severity of adverse events (time frame: 52 weeks following EXG110 administration). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Feb 2026.