Spinal Muscular Atrophy Type 2GITOPWTSMANCT06772402
GCB-001 in Treatment of Patients With Type II (SMA) Spinal Muscular Atrophy
A study testing GCB-001 in people with Spinal Muscular Atrophy Type 2, run by Genecombio Ltd. at 1 site in China.
Trial summary
This study explored dose escalation of single-arm, open, single intrathecal injection in patients with delayed onset type 2 SMA. The investigator plans to conduct 2 cohorts. It is expected that each dose will be enrolled 3 subjects, with a total of 6 subjects aged from 2-12 years old. Read more about this study
- Who is it for?
- Ages 2 to 12 years
- Conditions the study is for
- Spinal Muscular Atrophy Type 2
- What is being tested?
- GCB-001
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteChina
- Study dates
- 15 Jan 2025to 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 12 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Age ≥ 2 years and ≤ 12 years, gender not limited;
- Meet the clinical diagnostic criteria for type 2 SMA, have an onset age form 6 months to 18 months, are diagnosed with SMN1 double allele pathogenic mutation, have 2-4 copies of SMN2 gene, and meet the clinical diagnostic criteria for SMA 5qSMA;
- Capable of sitting alone but has never acquired the ability to walk independently (according to HFMSE standards, sitting alone: able to maintain a sitting position without hand support and count to 3 or more; walking independently: able to walk 4 or more steps without assistance);
- The guardians of the subjects are able to understand and willing to comply with the requirements and procedures of protocol, voluntarily participate and sign the informed consent form.
Who cannot join
- Researchers believe that gene replacement therapy may cause unnecessary risk of concomitant diseases, such as serious cardiovascular and cerebrovascular diseases, digestive tract diseases, liver and kidney dysfunction diseases, diabetes, known epilepsy, convulsions, convulsions or family history of psychosis;
- Subjects who have participated in AAV gene therapy or have participated in or are currently participating in clinical trials of other SMA drugs;
- Received treatment with Nordenafil Sodium Injection within 4 months prior to administration;
- Received treatment with risperidone within 15 days prior to administration;
- Subjects who have been treated with β 2 receptor agonists within 30 days prior to treatment (excluding inhaled salbutamol);
- Subjects with allergic constitution, including those who are allergic or hypersensitive to prednisolone, other glucocorticoids or their excipients, and allergic to local anesthetics;
- During the screening period, non-invasive ventilation support should be used for at least 12 hours per day;
- The serum Anti-AAV9 neutralizing antibody titer is greater than 1:200.
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
Children's Hospital ZheJiang Univisity School Of Medicine
Hangzhou, Zhejiang, 310003
About this study
Official title: An Open Label, Single Arm IIT Clinical Study Evaluating the Safety, Tolerability, and Preliminary Efficacy of GCB-001 in the Treatment of Patients With Delayed Onset Type 2 SMA Who Can Sit Alone But Cannot Walk.
This study explored dose escalation of single-arm, open, single intrathecal injection in patients with delayed onset type 2 SMA. The investigator plans to conduct 2 cohorts. It is expected that each dose will be enrolled 3 subjects, with a total of 6 subjects aged from 2-12 years old.
For safety reasons, first subject of each dose cohort needs to complete a 30-day safety observation. After the researcher determines that the dosing is safe and tolerable, the next two subjects can be enrolled in the cohort; The follow-up dose cohort adopts a sentinel test design, with the first subject of each dose group being a sentinel.
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. If the subject experiences grade ≥ 2 adverse events related to the study drug, the dose will be expanded to 3 subjects for further safety observation. Each subject in each dose cohort will be enrolled on a case by case basis.
- Conditions
- Spinal Muscular Atrophy Type 2
- Being tested
- GCB-001
- Keywords
- Type II SMA, AAV, GCB-001
- Medical subject headings
- Spinal Muscular Atrophies of Childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GCB-001Genetic
GCB-001 is a self-complementary AAV9 carrying a full length human SMN transgenetic product.
| Study group | Role | What they receive |
|---|---|---|
| Experimental : Low dose | Experimental | Low dose is the first cohort of the study with a low dose level. Receives: Genetic: GCB-001 |
| Experimental : High dose | Experimental | High dose is the first cohort of the study with a high dose level. Receives: Genetic: GCB-001 |
What is being measured
The primary outcome is the main question the study is designed to answer.
The rate of adverse events from baseline to 12 months after administration Assessed by CTCAE v4.0.
Measured: 0-12 months
AAV viral load after a single administration.
Detect the AAV viral load by central lab.
Measured: 0-12 months
AAV viral immunogenicity after a single administration.
Detect the AAV viral immunogenicity by central lab.
Measured: 0-12 months
AAV viral shedding after a single administration.
Detect the AAV viral shedding by central lab.
Measured: 0-12 months
The change in total HFMSE (Hammersmith Functional Motor Scale Expanded) score from baseline at 12 months after a single administration
This 66-point scale (66 = very much improved, 0 = very much worse, etc.) is used by the clinician to assess the participant's performance status; higher scores indicate better status.
Measured: 0-12 months
The change in total RULM (Revised Upper Limb Module) score from baseline at 12 months after a single administration
This 38-point scale (38 = very much improved, 0 = very much worse, etc.) is used by the clinician to assess the participant's performance status of upper limb; higher scores indicate better status.
Measured: 0-12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2025
- Study start15 Jan 2025
- 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 Spinal Muscular Atrophy Type 2Studies 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
- NCT06772402
- Sponsor's protocol ID
- GCB-001-401
- Acronym
- GITOPWTSMA
- Status last verified
- Sep 2026
- First submitted
- 3 Jan 2025
- Last updated
- 11 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Label, Single Arm IIT Clinical Study Evaluating the Safety, Tolerability, and Preliminary Efficacy of GCB-001 in the Treatment of Patients With Delayed Onset Type 2 SMA Who Can Sit Alone But Cannot Walk.
- ClinicalTrials.gov ID
- NCT06772402
- Acronym / sponsor ID
- GITOPWTSMA / GCB-001-401
- Conditions
- Spinal Muscular Atrophy Type 2
- Keywords
- Type II SMA, AAV, GCB-001
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Genecombio Ltd.University, hospital or other
- Collaborators
- The Children's Hospital of Zhejiang University School of Medicine
- Study start
- 15 Jan 2025 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 13 Jan 2025 (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.
This study explored dose escalation of single-arm, open, single intrathecal injection in patients with delayed onset type 2 SMA. The investigator plans to conduct 2 cohorts. It is expected that each dose will be enrolled 3 subjects, with a total of 6 subjects aged from 2-12 years old.
For safety reasons, first subject of each dose cohort needs to complete a 30-day safety observation. After the researcher determines that the dosing is safe and tolerable, the next two subjects can be enrolled in the cohort; The follow-up dose cohort adopts a sentinel test design, with the first subject of each dose group being a sentinel.
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. If the subject experiences grade ≥ 2 adverse events related to the study drug, the dose will be expanded to 3 subjects for further safety observation. Each subject in each dose cohort will be enrolled on a case by case basis.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Experimental : Low dose | Experimental | Genetic: GCB-001Low dose is the first cohort of the study with a low dose level. |
| Experimental : High dose | Experimental | Genetic: GCB-001High dose is the first cohort of the study with a high dose level. |
Who may qualify
- Ages
- 2 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Age ≥ 2 years and ≤ 12 years, gender not limited;
- Meet the clinical diagnostic criteria for type 2 SMA, have an onset age form 6 months to 18 months, are diagnosed with SMN1 double allele pathogenic mutation, have 2-4 copies of SMN2 gene, and meet the clinical diagnostic criteria for SMA 5qSMA;
- Capable of sitting alone but has never acquired the ability to walk independently (according to HFMSE standards, sitting alone: able to maintain a sitting position without hand support and count to 3 or more; walking independently: able to walk 4 or more steps without assistance);
- The guardians of the subjects are able to understand and willing to comply with the requirements and procedures of protocol, voluntarily participate and sign the informed consent form.
Key exclusion criteria (8 listed)
- Researchers believe that gene replacement therapy may cause unnecessary risk of concomitant diseases, such as serious cardiovascular and cerebrovascular diseases, digestive tract diseases, liver and kidney dysfunction diseases, diabetes, known epilepsy, convulsions, convulsions or family history of psychosis;
- Subjects who have participated in AAV gene therapy or have participated in or are currently participating in clinical trials of other SMA drugs;
- Received treatment with Nordenafil Sodium Injection within 4 months prior to administration;
- Received treatment with risperidone within 15 days prior to administration;
- Subjects who have been treated with β 2 receptor agonists within 30 days prior to treatment (excluding inhaled salbutamol);
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-001GCB-001 is a self-complementary AAV9 carrying a full length human SMN transgenetic product. | Genetic | Experimental : High dose, Experimental : Low dose |
Primary outcome
The rate of adverse events from baseline to 12 months after administration Assessed by CTCAE v4.0.
Time frame: 0-12 months
AAV viral load after a single administration.
Time frame: 0-12 months
Detect the AAV viral load by central lab.
AAV viral immunogenicity after a single administration.
Time frame: 0-12 months
Detect the AAV viral immunogenicity by central lab.
AAV viral shedding after a single administration.
Time frame: 0-12 months
Detect the AAV viral shedding by central lab.
The change in total HFMSE (Hammersmith Functional Motor Scale Expanded) score from baseline at 12 months after a single administration
Time frame: 0-12 months
This 66-point scale (66 = very much improved, 0 = very much worse, etc.) is used by the clinician to assess the participant's performance status; higher scores indicate better status.
The change in total RULM (Revised Upper Limb Module) score from baseline at 12 months after a single administration
Time frame: 0-12 months
This 38-point scale (38 = very much improved, 0 = very much worse, etc.) is used by the clinician to assess the participant's performance status of upper limb; higher scores indicate better status.
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 11 Sep 2026.
- Individual participant dataSharing planned: No
Related trials for Spinal Muscular Atrophy Type 2
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
Spinal Muscle Atrophy
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingPhase 2
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
Spinal Muscular Atrophy, SMA
Active, not recruitingPhase 3
Long-term Follow-up Study of Patients Receiving Onasemnogene Abeparvovec-xioi
Spinal Muscular Atrophy Type I, Spinal Muscular Atrophy Type II
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-001 in people with Spinal Muscular Atrophy Type 2, 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 4 inclusion and 8 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 11 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?
The rate of adverse events from baseline to 12 months after administration Assessed by CTCAE v4.0. (time frame: 0-12 months). The study lists 6 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 11 Sep 2026.