RETT Syndrome With Proven MECP2 MutationGITFPWRSNCT06739434
GCB-002 in Treatment of Patients With Rett Syndrome
A study testing GCB-002 in people with RETT Syndrome With Proven MECP2 Mutation, run by Genecombio Ltd. at 1 site in China.
Trial summary
Study Brief Summary overall design This study explored dose escalation of single-arm, open, single intrathecal injection in female RTT subjects with MECP2 gene mutations. The investigator plans to conduct 2-3 dose groups. Read more about this study
- Who is it for?
- Ages 2 to 10 years, women only
- Conditions the study is for
- RETT Syndrome With Proven MECP2 Mutation
- What is being tested?
- GCB-002
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteChina
- Study dates
- 11 Nov 2024to Dec 2030
- 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 2 to 10 years
- Women only
- No healthy volunteers
- Child
Who may be able to join
- Age range from 2 to 10 years old, female;
- The clinical diagnosis of the subject is RTT, and after genetic testing, it was found to be a pathogenic variant of the MECP2 gene;
- The legal guardian is able to understand the requirements and procedures of the research plan, voluntarily participate, and sign an informed consent form.
Who cannot join
- Has participated in or is currently participating in other RTT drug clinical trials or other AAV gene therapy clinical studies;
- The subject has a history of head injuries that can cause neurological disorders such as epilepsy, physical disabilities, etc;
- The subject has MECP2 gene mutation but does not cause RTT;
- Subjects with allergic constitution, including those allergic or hypersensitive to prednisolone, other glucocorticoids, their excipients, and local anesthetics;
- The subjects had status epilepticus in the 3 months prior to enrollment;
- Subjects require invasive or non-invasive ventilation support;
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- Serum anti AAV9 neutralizing antibody titer>1:200;
- During the screening visit, subjects with the following abnormal findings: ALT, AST, and γ-glutamyl transferase (GGT) levels all ≥1.0×ULN, TBIL ≥1.0×ULN; serum creatinine (Scr) >1.0×ULN; activated partial thromboplastin time (APTT) prolonged >1.5×ULN / INR >1.5; platelet count (PLT) <100×10^9/L or investigator judgment that PLT results are abnormal and clinically significant;
- Contraindications for lumbar puncture or intrathecal therapy exist;
- Positive for human immunodeficiency virus antibody, or hepatitis B surface antigen, or hepatitis C antibody, or Treponema pallidum antibody, or current TORCH viral infection, or current Epstein-Barr virus infection;
- Combination use of any of the following drugs within 90 days prior to administration, and planned immunotherapy therapy (cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab) other than prophylactic medication as specified in the protocol within 3 months after the start of the trial;
- The researchers believe that it is not suitable to participate in this study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, 200092
About this study
Official title: An Open Label, Single Arm, Dose Escalation Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of GCB-002 in the Treatment of Female Subjects With MECP2 Gene Mutation in Patients With Rett Syndrome
Study Brief Summary overall design This study explored dose escalation of single-arm, open, single intrathecal injection in female RTT subjects with MECP2 gene mutations. The investigator plans to conduct 2-3 dose groups. It is expected that each dose group will enroll 3 subjects, with a total of 6-9 female RTT subjects aged 2-10 years old due to MECP2 gene mutations.
dose escalation
Read more
- For safety reasons, each subject in the first dose group needs to complete a 30-day safety observation. After the researcher determines that it is safe and tolerable, the next subject can be enrolled in the group;
- The follow-up dose group adopts a sentinel test design, with the first case of each dose group being a sentinel. The first subject needs to complete a 30-day safety observation, and after the researcher determines that it is safe and tolerable, the remaining subjects can be enrolled in the group;
- If none of the three subjects in a certain dose group developed DLT, the study will proceed to the next higher dose group;
- If there are no safety issues and no adverse events of dose escalation termination in dose group 2 (see dose termination escalation rules), the researcher and funding unit (Genecombio) will conduct a comprehensive evaluation of the safety data and efficacy trends of all subjects in dose group 2 to determine whether to escalate to dose group 3;
- During the DLT observation period, if the subject does not observe DLT and the researcher believes that continuing treatment can bring clinical benefits to the subject, the subject will continue to receive treatment; During the DLT observation period, if there is no occurrence of DLT or ≥ grade 2 adverse events related to the investigational drug, it will be escalated to the next dose group. If the subject experiences grade ≥ 2 adverse events related to the study drug, the dose group will be expanded to 3 subjects for further observation of drug safety, and a "3+3" rule will be applied from this dose group onwards. Each subject in each dose group will be enrolled on a case by case basis.
According to the "Technical Guidelines for Long term Follow up Clinical Research of Gene Therapy Products (Trial)", in clinical studies, subjects can automatically enter the long-term follow-up research stage after the last follow-up (52 weeks after administration), and the follow-up period is 5 years after the initial administration.
- Conditions
- RETT Syndrome With Proven MECP2 Mutation
- Being tested
- GCB-002
- Keywords
- Rett, MECP2
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GCB-002Genetic
GCB-002 is a self-complementary AAV9 carrying a full length human MECP2 transgenetic product.
| Study group | Role | What they receive |
|---|---|---|
| Low dose | Experimental | Low dose is the first cohort of the study with a low dose level. Receives: Genetic: GCB-002 |
| High dose | Experimental | High dose is the first cohort of the study with a high dose level. Receives: Genetic: GCB-002 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the incidence of drug-related adverse events from baseline to 52 weeks after administration
Measured: 0-52 weeks
Evaluate the changes from baseline using the Clinical Global Impression Scale - Overall Improvement (CGI-I) after 52 weeks of administration
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Measured: 0-52 weeks
Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale compared to baseline after 52 weeks of drug administration
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Measured: 0-52 weeks
Evaluate the changes in Rett Syndrome Behavior Questionnaire (RSBQ) compared to baseline after 52 weeks of drug administration
The RSBQ is a 45-item questionnaire and is completed by the participant's Caregiver. Scores (0 = not true, 1 = somewhat/sometimes true, or 2 = very true) are applied to subscales including General Mood, Breathing Problems, Fear/Anxiety, Walking/Standing, etc.; higher scores indicate greater severity.
Measured: 0-52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Dec 2024
- Study start11 Nov 2024
- Primary completionDec 2027 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RETT Syndrome With Proven MECP2 MutationStudies 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 N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Genecombio Ltd.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06739434
- Sponsor's protocol ID
- GCB-002-101
- Acronym
- GITFPWRS
- Status last verified
- Sep 2026
- First submitted
- 12 Dec 2024
- Last updated
- 15 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Label, Single Arm, Dose Escalation Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of GCB-002 in the Treatment of Female Subjects With MECP2 Gene Mutation in Patients With Rett Syndrome
- ClinicalTrials.gov ID
- NCT06739434
- Acronym / sponsor ID
- GITFPWRS / GCB-002-101
- Conditions
- RETT Syndrome With Proven MECP2 Mutation
- Keywords
- Rett, MECP2
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Genecombio Ltd.University, hospital or other
- Collaborators
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Study start
- 11 Nov 2024 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 18 Dec 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.
Study Brief Summary overall design This study explored dose escalation of single-arm, open, single intrathecal injection in female RTT subjects with MECP2 gene mutations. The investigator plans to conduct 2-3 dose groups. It is expected that each dose group will enroll 3 subjects, with a total of 6-9 female RTT subjects aged 2-10 years old due to MECP2 gene mutations.
dose escalation
- For safety reasons, each subject in the first dose group needs to complete a 30-day safety observation. After the researcher determines that it is safe and tolerable, the next subject can be enrolled in the group;
- The follow-up dose group adopts a sentinel test design, with the first case of each dose group being a sentinel. The first subject needs to complete a 30-day safety observation, and after the researcher determines that it is safe and tolerable, the remaining subjects can be enrolled in the group;
- If none of the three subjects in a certain dose group developed DLT, the study will proceed to the next higher dose group;
- If there are no safety issues and no adverse events of dose escalation termination in dose group 2 (see dose termination escalation rules), the researcher and funding unit (Genecombio) will conduct a comprehensive evaluation of the safety data and efficacy trends of all subjects in dose group 2 to determine whether to escalate to dose group 3;
- During the DLT observation period, if the subject does not observe DLT and the researcher believes that continuing treatment can bring clinical benefits to the subject, the subject will continue to receive treatment; During the DLT observation period, if there is no occurrence of DLT or ≥ grade 2 adverse events related to the investigational drug, it will be escalated to the next dose group. If the subject experiences grade ≥ 2 adverse events related to the study drug, the dose group will be expanded to 3 subjects for further observation of drug safety, and a "3+3" rule will be applied from this dose group onwards. Each subject in each dose group will be enrolled on a case by case basis.
According to the "Technical Guidelines for Long term Follow up Clinical Research of Gene Therapy Products (Trial)", in clinical studies, subjects can automatically enter the long-term follow-up research stage after the last follow-up (52 weeks after administration), and the follow-up period is 5 years after the initial administration.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Low dose | Experimental | Genetic: GCB-002Low dose is the first cohort of the study with a low dose level. |
| High dose | Experimental | Genetic: GCB-002High dose is the first cohort of the study with a high dose level. |
Who may qualify
- Ages
- 2 to 10 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Age range from 2 to 10 years old, female;
- The clinical diagnosis of the subject is RTT, and after genetic testing, it was found to be a pathogenic variant of the MECP2 gene;
- The legal guardian is able to understand the requirements and procedures of the research plan, voluntarily participate, and sign an informed consent form.
Key exclusion criteria (12 listed)
- Has participated in or is currently participating in other RTT drug clinical trials or other AAV gene therapy clinical studies;
- The subject has a history of head injuries that can cause neurological disorders such as epilepsy, physical disabilities, etc;
- The subject has MECP2 gene mutation but does not cause RTT;
- Subjects with allergic constitution, including those allergic or hypersensitive to prednisolone, other glucocorticoids, their excipients, and local anesthetics;
- The subjects had status epilepticus in the 3 months prior to enrollment;
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 |
|---|---|---|
| GCB-002GCB-002 is a self-complementary AAV9 carrying a full length human MECP2 transgenetic product. | Genetic | High dose, Low dose |
Primary outcome
Evaluate the incidence of drug-related adverse events from baseline to 52 weeks after administration
Time frame: 0-52 weeks
Evaluate the changes from baseline using the Clinical Global Impression Scale - Overall Improvement (CGI-I) after 52 weeks of administration
Time frame: 0-52 weeks
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale compared to baseline after 52 weeks of drug administration
Time frame: 0-52 weeks
This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Evaluate the changes in Rett Syndrome Behavior Questionnaire (RSBQ) compared to baseline after 52 weeks of drug administration
Time frame: 0-52 weeks
The RSBQ is a 45-item questionnaire and is completed by the participant's Caregiver. Scores (0 = not true, 1 = somewhat/sometimes true, or 2 = very true) are applied to subscales including General Mood, Breathing Problems, Fear/Anxiety, Walking/Standing, etc.; higher scores indicate greater severity.
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 15 Sep 2026.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing GCB-002 in people with RETT Syndrome With Proven MECP2 Mutation, run by Genecombio Ltd. at 1 site 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 3 inclusion and 12 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: enrolling by invitation, as of the sponsor's last update on 15 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate the incidence of drug-related adverse events from baseline to 52 weeks after administration (time frame: 0-52 weeks). The study lists 4 primary outcomes in all. 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 15 Sep 2026.