ClinicalTrials.gov record NCT06272149
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
An Exploratory Clinical Trial to Evaluate the Tolerability and Safety of VGN-R08b Via Intracerebroventricular Injection in Patients With Type II Gaucher 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 early-phase interventional study evaluates VGN-R08b gene therapy delivered by intracerebroventricular injection in infants with type II Gaucher disease (≤24 months). It is a single-center, open-label study with a dose-climbing phase (two dose levels, one subject each) followed by a small dose-expansion phase. The main outcome is safety and tolerability through Week 52, with longer-term follow-up planned.
What it is studying. The study is testing the tolerability and safety of an intracerebroventricular dose of VGN-R08b in infants with type II Gaucher disease. It will collect data on adverse events, survival up to 24 months, enzyme and disease biomarkers, immune responses to the vector and GCase, and presence of vector DNA in blood over follow-up.
What the researchers hope to learn. To gather preliminary evidence on tolerability and safety of VGN-R08b delivered into the cerebroventricular space. To measure adverse events and serious adverse events, survival at age 24 months, changes in GCase activity and lipid biomarkers (glucocerebroside and Lyso-GL1), immunogenicity to AAV9 and GCase, and vector genomic levels in blood.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Drug
- VGN-R08b
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Infants with age of ≤24 months.
- Historical diagnosis of Gaucher disease confirmed by GCase enzyme activity test, and with GBA1 biallelic mutations.
- Neurological signs and/or symptoms consistent with diagnosis of GD2.
- Parent(s)/legal guardian(s) of subject must give their consent for subject to enroll in the study.
- Parent(s)/legal guardian(s) of the subject must agree to comply with the requirements of the study, including providing disease information and support disease assessment of symptoms.
Exclusion criteria
- Diagnosis of a significant CNS disease other than GD2 that may be a cause for the patient's GD symptoms or may confound study objectives.
- Achieved independent gait.
- Severe visceral symptoms of GD which, in the opinion of the Investigator, would pose an unacceptable risk to the patient or interfere with the patient's ability to comply with study procedures or interfere with the conduct of the study.
- Clinically active infection (including HIV, HBV, HCV or syphilis).
- For those receiving enzyme replacement therapy and/or substrate reduction therapy and/or ambroxol for Gaucher disease, stable treatment ≤2 months before enrollment.
- Use of strong inhibitors or inducers of cytochrome CYP3A4 or P-glycoprotein (P-gp) medications, herbals, or over-the-counter agents.
- Any type of prior gene or cell therapy.
- Immunizations (live vaccines) in the prior 4 weeks.
- Use of systemic immunosuppressant or corticosteroid therapy other than protocol-specified (topical preparations for dermatological conditions are allowed).
- Patients with anti-AAV9 neutralizing antibody titer over 1:5.
- Brain MRI (magnetic resonance imaging) showing clinically significant abnormality considered to prevent intracisternal injection.
- Contraindication to sedation during surgery or imaging studies (PET).
- Presence of other significant medical conditions that would create an unacceptable risk to the patient or interfere with the patient's ability to comply with study procedures or interfere with the conduct of the study.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
Gaucher disease (GD) is an autosomal recessive genetic metabolic disorder. Due to the mutation of Glucocerebrosidase gene (GBA1), the activity of glucocerebrosidase (GCase) in the lysosome of the body is reduced, causing its substrate glucocerceramide to be accumulated in macrophage lysosomes in the liver, spleen, bone, lung, brain and eyes. Type II, acute neuropathy, with extensive and severe visceral involvement, usually develops within the first year of life, and most children die before the age of 2. VGN-R08b is a kind of Gene therapy with adeno-associated virus (AAV) serotype 9 (AAV9) driven human GBA1 being injected directly into intracerebroventricular. This is a single-center, open, dose-climbing investigator-sponsored exploratory clinical study that included a dose-climbing phase and a dose-expanding phase. The sponsor plans to explore two dose levels in dose-climbing phase (one subject each cohort), then have additional 2~4 subjects in dose-expanding phase. This study is to give preliminary evidence for the safety and efficacy of VGN-R08b treatment for patients with type II Gaucher disease.
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 the investigational gene therapy (VGN‑R08b) given by intracerebroventricular injection under sedation/anesthesia. They will have baseline and regular follow-up visits with physical and neurological exams, brain imaging (MRI and possibly PET), and blood and cerebrospinal fluid (CSF) samples for enzyme, biomarker, antibody, and vector‑DNA testing. Safety will be followed closely through Week 52 and with long‑term follow‑up up to 5 years for adverse events, survival, and laboratory measures. Some procedures require sedation/anesthesia and the study team will review vaccine and medication restrictions before enrollment.
How the study is structured. Interventional, early Phase 1, single-group, open-label trial. Participants receive VGN-R08b by intracerebroventricular injection. The study starts with a dose-climbing phase (two dose levels, one subject per cohort) then moves to a small dose-expansion phase (about 2–4 additional subjects). Safety is monitored up to Week 52 with longer safety follow-up planned.
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 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 Gaucher disease
Important dates
- Study start
- Mar 1, 2023
- Primary completion
- Jan 15, 2025 (estimated)
- Study completion
- Feb 28, 2029 (estimated)
- Target enrollment
- 6 participants (estimated)
- Last updated on registry
- Feb 22, 2024
- 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
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Collaborators
- Shanghai Vitalgen BioPharma Co., 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.
- Zhang Huiwen, Dr. 📞 18117165075 ✉ zhanghuiwen@xinhuamed.com.cn
Participating sites (1)
- Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineRecruiting
Shanghai, Shanghai Municipality, 200097 · China
- Zhang Huiwen, Dr. · 18117165075 · zhanghuiwen@xinhuamed.com.cn
Terms used on this page · explanations by MedicalUpdates.ai
- legal guardian
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- immunosuppressant
- A medicine that reduces the activity of the immune system. Studies of autoimmune conditions often require a stable dose, a prior failure, or a washout of such medicines.
- corticosteroid
- Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- Contraindication
- A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
- PET
- A scan in which a small amount of a radioactive tracer is injected so that activity in tissues can be seen. Often combined with a CT or MRI scan.
- 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.
- intracerebroventricular
- Given directly into the fluid-filled spaces (ventricles) inside the brain, usually through an implanted catheter or reservoir.
- sponsor
- The organisation or person that initiates the study and has authority over it. The sponsor may be a company, hospital, university, government agency or individual, and is not necessarily the organisation that funds the study.
- cohort
- A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
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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