Gaucher Disease Type 3Phase 1/2NCT07603050
A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
A Phase 1/2 study testing VGN-R08b in people with Gaucher Disease Type 3, run by Shanghai Vitalgen BioPharma Co., Ltd..
Trial summary
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease Read more about this study
- Who is it for?
- Ages 2 to 18 years
- Conditions the study is for
- Gaucher Disease Type 3
- What is being tested?
- VGN-R08b
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 12 participants
- Where
- No sites listed yet
- Study dates
- 14 May 2026to 16 Aug 2032
- Phase
- Phase 1/2
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 2 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- The signing of the informed consent form should be completed when the subject is at least 2 years old but less than 18 years old.
- The subject has a documented medical history of Gaucher disease confirmed by GCase enzyme activity testing, and has a double GBA1 gene mutation.
- According to the investigator's assessment, the neurological signs and/or symptoms are consistent with type III Gaucher disease.
- At the time of enrollment, the subject has horizontal eye movement disorders (including gaze paralysis, or delayed or absent saccades), but there is no severe motor dysfunction resulting in bedridden status.
- The subject is currently receiving substrate reduction therapy (SRT) and/or high-dose ambroxol for Gaucher disease treatment. The subject is required to have been on stable treatment for at least 2 months before enrollment and the investigator determines that the treatment is ineffective for neurological symptoms, or is willing to discontinue the treatment at the time of enrollment (discontinuation 1 week before administration).
- The subject is currently receiving and willing to continue stable peripheral treatment (including imiglucerase or other ERT, or SRT), and the peripheral symptoms of Gaucher disease are stable at the time of screening, that is, all of the following conditions are met: hemoglobin level ≥ 11.0 g/dL (female) or ≥ 12.0 g/dL (male), platelet count ≥ 100×109/L, spleen volume < 10 times the normal value (MN), liver volume < 1.5 MN, and no bone crisis or asymptomatic bone disease (such as bone necrosis and/or pathological fractures causing bone pain) within 3 months before screening.
Show all 9Show fewer
- (Applicable) Male and female subjects with reproductive potential must continue to use an effective contraceptive method (including abstinence) correctly from the screening period until at least 1 year after the start of treatment, and not donate sperm or eggs.
- The subject (applicable) and their parents/guardians must understand the trial information, purpose and risks described in the informed consent form, and authorize the use of the subject's health information and provide an informed consent form with the signature and date of signing.
- The subject (applicable) and their parents/guardians are willing to participate in the study as information providers, providing the subject's health status, cognition and physical ability (including providing information for rating scales).
Who cannot join
- There are other serious neurological disorders that may cause symptoms of Gaucher disease or interfere with the research objectives;
- There are severe internal organ damages caused by Gaucher disease, which, after evaluation by the researchers, are considered to pose unacceptable risks to the subjects, or interfere with the subjects' research compliance, or interfere with the execution of the trial;
- Long-term ventilation or long-term nasogastric feeding (long-term ventilation is defined as: requiring tracheotomy for respiratory assistance, or continuous 14 days or more of non-invasive respiratory assistance for ≥ 16 hours per day, excluding acute reversible diseases that require assisted ventilation and perioperative ventilation. Long-term nasogastric feeding refers to the use of a nasogastric tube for feeding due to severe loss of swallowing function);
- There are severe immunodeficiencies or autoimmune diseases;
- There is active infection (including viral infections such as HIV, HBV, HCV or syphilis);
- The following medication and treatment situations exist:
Show all 10Show fewer
- Currently using drugs, herbs, or over-the-counter medications that have strong inhibitory or inducing effects on CYP3A4 or P-gp;
- Having received bone marrow or organ transplantation, or any gene or cell therapy;
- Having undergone immunization (live vaccines) within 4 weeks;
- Undergoing systemic immunosuppressive therapy or corticosteroid therapy other than that required by the protocol (local preparations for skin diseases can be used);
About this study
Official title: A Phase I/II Clinical Study to Evaluate the Tolerance, Safety and Efficacy of VGN-R08b Intracerebroventricular Injection in Patients With Type III Gaucher's Disease
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease
Read the detailed description
This is an open-label, dose-escalation clinical trial, consisting of dose escalation and dose expansion. A total of 12 subjects are expected to be enrolled.
Dose escalation: Initially, three doses of 6×10^10 vg/g, 1.2×10^11 vg/g, and 1.8×10^11 vg/g (per unit brain weight) are planned to be explored . Three subjects will be enrolled in each dose group. The second and third subjects in the same dose group must be confirmed to be safe and tolerable after at least a 4-week safety assessment of the first subject before receiving the drug. For the high-dose group (1.8×10^11 vg/g), subjects will be enrolled one by one.
Dose expansion: After the dose escalation is completed, the SRC will comprehensively evaluate the data on efficacy, safety, and immunogenicity, etc., to select the optimal effective dose and expand the enrollment by 3 cases.
- Conditions
- Gaucher Disease Type 3
- Being tested
- VGN-R08b
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
VGN-R08bDrug
6×10^10 vg/g
VGN-R08bDrug
1.2×10^11 vg/g
VGN-R08bDrug
1.8×10^11 vg/g
| Study group | Role | What they receive |
|---|---|---|
| Dose group (1) | Experimental | 3 subjects on 6×10^10 vg/g for at least 4 weeks post injection Receives: Drug: VGN-R08b |
| Dose group (2) | Experimental | 3 subjects on 1.2×10^11 vg/g for at least 4 weeks post injection Receives: Drug: VGN-R08b |
| Dose group (3) | Experimental | 3 subjects on 1.8×10^11 vg/g for at least 4 weeks post injection Receives: Drug: VGN-R08b |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of adverse events (AE), Serious adverse events (SAE)
Vital signs, physical examination, laboratory test results will be monitored after drug injection
Measured: Up to 5 years
Secondary outcomes (6)
Changes in Glucose Gangliosidase (GCase)
Changes in the activities of glucose gangliosidase (GCase) in peripheral blood and cerebrospinal fluid (CSF) after medication administration
Measured: Up to 5 years
Changes in Glucose sialic acid (Lyso-GL1)
Changes in the levels of glucose sialic acid (Lyso-GL1) in peripheral blood and cerebrospinal fluid (CSF) after medication administration
Measured: Up to 5 years
Changes in electrooculogram
Changes in pupillary reflex, horizontal eye movement and vertical eye movement after medication administration compared to the baseline
Measured: Up to 5 years
Changes in Scale for the Assessment and Rating of Ataxia
Changes in ataxia, and the proportion of subjects whose ataxia symptoms showed significant improvement compared to the baseline
Measured: Up to 5 years
Viral shedding
Changes in the genomic levels of the VGN-R08b vector in peripheral blood, urine, feces, and nasal mucosal secretions after medication administration
Measured: Up to 5 years
Immunogenicity
The number of subjects who produced antibodies against AAV9 and GCase, as well as the antibody titers, including in serum and CSF
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 May 2026
- Study start14 May 2026 (estimated)
- Primary completion29 May 2028 (estimated)
- Study completion16 Aug 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease Type 3Studies of the same condition, open and under way.
- 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 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 12 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07603050
- Sponsor's protocol ID
- VGN-R08b-102
- Status last verified
- May 2026
- First submitted
- 30 Apr 2026
- Last updated
- 22 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No