ClinicalTrials.gov record NCT06819514

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

A Phase 1/2, Multicenter, Open-label,Dose-escalation Study to Evaluate the Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 1/2A study that combines safety and dose-finding (phase 1) with a first look at whether the treatment has an effect (phase 2).
Age18 years old and older
SexAll
LocationChina
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 phase 1/2, open-label study gives a single intravenous dose of EXG110 gene therapy to adults with Fabry disease who have kidney or heart involvement. Phase 1 uses dose-escalation (low and high dose groups); phase 2 expands the selected dose. The study follows participants to assess safety and measures kidney, heart, pain, and gastrointestinal outcomes.

What it is studying. The study is testing the safety and tolerability of a single IV infusion of EXG110 and its effects on organ-related measures in Fabry disease. EXG110 is described in the registry as a gene therapy that uses a proprietary AAV capsid with improved liver and muscle specificity. Outcomes the study will measure include adverse events and, in phase 2, changes in kidney findings (including Gb3 accumulation on renal biopsy), left ventricular mass index (LVMI), pain scores (Brief Pain Inventory), and gastrointestinal symptom scores (GSRS).

What the researchers hope to learn. To evaluate safety and tolerability of EXG110 after a single intravenous infusion; to assess changes from baseline in kidney function (including Gb3 accumulation on renal biopsy), cardiac function (LVMI), pain (BPI scores), and gastrointestinal symptoms (GSRS). Secondary goals include measuring eGFR and LVMI changes over 52 weeks.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • EXG110 Injection

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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

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) 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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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

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.

Participants receive a single intravenous infusion of EXG110 (low or high dose) as part of a dose‑escalation/expansion plan. They will have safety blood tests and clinical assessments, heart measurements to track left ventricular mass, and kidney tests — which may include a renal (kidney) biopsy to assess Gb3 accumulation. Participants complete questionnaires for pain (Brief Pain Inventory) and gastrointestinal symptoms (GSRS) and have regular follow‑up visits to monitor kidney and heart function. Safety monitoring and follow‑up continue for up to 52 weeks, and additional tests may be done per the study protocol.

How the study is structured. Interventional, open-label, non-randomized study with sequential dose-escalation (phase 1: low and high dose groups) followed by a dose-expansion group (phase 2). Participants receive a single IV infusion of EXG110 and are followed for safety and clinical measures over the study period (primary outcome timeframes include 6 months and up to 52 weeks for some safety endpoints).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • 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

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 1, 2025 (estimated)
Primary completion
Mar 15, 2028 (estimated)
Study completion
Mar 15, 2028 (estimated)
Target enrollment
16 participants (estimated)
Last updated on registry
Feb 11, 2025
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
Guangzhou Jiayin Biotech Ltd

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.

Participating sites (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

Terms used on this page · explanations by MedicalUpdates.ai

open-label
No masking is used, so the assigned intervention is not deliberately hidden from participants or study staff.
Dose-escalation
Groups of participants receive increasing doses of a treatment, one group after another, to find a dose that can be given safely.
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.
informed consent form
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.
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.
Phase 1
An early-stage study, usually small, mainly to check safety, side effects and how much of a treatment can be given. Whether it works is not the main question yet.
Phase 2
A study that tests whether a treatment has the intended effect and continues to check safety, usually in a larger group than phase 1.

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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