ClinicalTrials.gov record NCT06539624
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
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
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This open-label, non-randomized, single-arm dose-escalation study gives a single IV dose of EXG110 to people with Fabry disease (age ≥7). It explores safety and tolerability of different doses and collects early measures of organ function and biomarkers over follow-up.
What it is studying. The study is testing the safety and tolerability of different single intravenous doses of EXG110 and collecting early data on possible effects. Measured outcomes include kidney function (eGFR), heart function (NYHA class), skin angiokeratoma area and Gb3 in skin biopsy, and blood biomarkers such as AGA activity and lysoGb3, followed for the scheduled study period.
What the researchers hope to learn. To evaluate safety and tolerability of EXG110 after a single IV dose and to gather preliminary efficacy data on kidney and heart measures, skin findings, and blood biomarkers over 52 weeks.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Genetic
- EXG110 injection
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- 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
Exclusion criteria
- 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
- 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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
If enrolled, participants receive a single intravenous infusion of EXG110 at a dose assigned by the study (dose‑escalation cohorts). They will have regular follow-up visits and safety monitoring for about 52 weeks including blood tests, heart and kidney assessments, and collection of biological samples; skin biopsy measurements are listed as an outcome and may be performed. Screening includes bloodwork, viral and antibody testing, and other baseline checks. Reproductive‑age participants must follow contraception requirements through 52 weeks after dosing.
How the study is structured. Participants receive one IV infusion of EXG110 in a dose-escalation plan (several dose cohorts), with no placebo and no masking. The study is multicenter, single-arm, and non-randomized; safety and selected measures are followed over the scheduled follow-up (primary outcomes assessed through 52 weeks after dosing).
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- The listed sites are in China. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Fabry disease
Important dates
- Study start
- Oct 16, 2024
- Primary completion
- Apr 9, 2027 (estimated)
- Study completion
- Apr 9, 2027 (estimated)
- Target enrollment
- 12 participants (estimated)
- Last updated on registry
- Feb 27, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- The Children's Hospital of Zhejiang University School of Medicine
- Principal investigator
- Mao Jianhua, Vice President of the hospital
The Children's Hospital of Zhejiang University School of Medicine
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Jianhua Mao, PhD 📞 13516819071 ✉ maojh88@zju.edu.cn
Participating sites (2)
- Shanghai Children's Medical CenterRecruiting
Shanghai, Shanghai Municipality · China
- Lei Yin, PhD · 13641673203 · yinlei@scmc.com.cn
- Lei Yin, PhD
- Children's Hospital, Zhejiang University School of MedicineRecruiting
Hangzhou, Zhejiang · China
- Mao Jianhua, MD · 13616819071 · maojh88@zju.edu.cn
Terms used on this page · explanations by MedicalUpdates.ai
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- screening period
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- upper limit of normal
- The highest value of a blood test that a laboratory considers normal. Criteria such as '≤ 3 × ULN' mean the result must be no more than three times that value.
- investigational
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- 5 half-lives
- The time it takes for the amount of a drug in the body to fall by half. 'Five half-lives' is often used as the point at which a previous drug has essentially left the body.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- open-label
- No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
- single-arm
- All participants receive the same treatment or follow the same plan. There is no comparison group within the study.
- randomized
- Participants are assigned to the study groups by chance, like a coin toss, rather than chosen by the doctor or the participant. This is done so the groups are comparable.
- dose-escalation
- Groups of participants receive increasing doses of a treatment, one group after another, to find a dose that can be given safely.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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