SMA IIPhase 1/2NCT05901987
Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients
A Phase 1/2 study testing GC101 in people with SMA II, run by GeneCradle Inc at 5 sites in China.
Trial summary
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 2 (SMA 2) patients. Read more about this study
- Who is it for?
- Ages 6 to 60 months
- Conditions the study is for
- SMA II
- What is being tested?
- GC101
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 33 participants
- Where
- 5 sitesChina
- Study dates
- 1 Aug 2023to Dec 2028
- Phase
- Phase 1/2
- 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 6 to 60 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Between 6 months and 60 months of age on day of signing informed consent form;
- Patient with SMA Type 2 as defined by the following features:
- Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN
- Onset of disease between 6 and 18 months of age
- Patient who can sit alone but never be able to stand or walk alone ;
- The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.
Who cannot join
- Patient who has participated in any previous gene therapy research trials;
- Patient who has received Nusinersen within 4 months and Risdiplam within 15 days before treatment;
- Patient who has AAV9 neutralizing antibody titer ≥1:200;
- Patient with a point mutation in SMN2 (c.859G>C);
- Patient who requires non-invasive ventilatory support averaging≥12 hours/day at screening, or use invasive ventilatory support or pulse oximetry < 95% saturation while awake and calm at screening;
- Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
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- Abnormal laboratory values considered clinically significant, including gamma-glutamyl transferase(GGT), Aspartate aminotransferase (AST), alanine aminotransferase (ALT), bilirubin > 3x upper limit of normal (ULN), Hemoglobin (Hgb)< 110 or >150 g/L, platelet <lower limit of normal (LLN);Class IV patient based on Modified Ross Heart Failure Classification for Children;
- Patient with a history of glucocorticoid allergy;
- Contraindication that would interfere with the lumbar puncture procedures;
- Presence of an untreated active infection requiring systemic antiviral therapy at any time during the screening period;
- Vaccination less than 2 weeks before infusion of vector;
- Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the Investigator, makes the subject unsuitable for participation in the study.
- Note: Other protocol defined inclusion/exclusion criteria may apply.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
China5 sites
Peking University， First Hospital, Department of Pediatrics
Beijing, 100034
Bayi Children's Hospital, Seventh Medical Center, PLA general hospital
Beijing, 100700
West China Second University Hospital, Sichuan University
Chengdu
Children's Hospital of Chongqing Medical University
Chongqing
Tongji Medical college of Huazhong University of Science&Technology, Affiliated Children's Hospital
Wuhan
About this study
Official title: A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 2 (SMA 2) patients.
Read the detailed description
The purpose of this trial is to evaluate safety and efficacy of gene therapy drug GC101 in SMA 2 patients. Open-label, dose-escalation clinical trial of GC101 will be conducted in multiple centers in China.
GC101 will be administrated intrathecally. Short-term safety will be evaluated in 52 weeks and enter long-term follow-up study of 5 years at will. Patients will be tested at baseline and followed up on various time points.
The primary analysis for efficacy will be assessed at 12 months after treatment with GC101 on the motor milestone of stand unassisted for at least 3 seconds for patients of age between 6 and 24 months, or changes from baseline HFMSE scores for patients of age between 24 and 60 months.
- Conditions
- SMA II
- Being tested
- GC101
- 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.
GC101Genetic
Self-complementary AAV9 carrying a codon-optimized SMN coding sequence(coSMN1) driven by CMV enhancer and chicken β-actin promoter
| Study group | Role | What they receive |
|---|---|---|
| Low dosing group | Experimental | 1.2x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) Receives: Genetic: GC101 |
| Medium dosing group | Experimental | 2.4x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) Receives: Genetic: GC101 |
| High dosing group | Experimental | 4.8x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) Receives: Genetic: GC101 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of Treatment-Emergent Adverse Events
Frequency of treatment-related adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Measured: 52 weeks
Proportion of patients who can stand unassisted for at least 3 seconds at Month 12
Measured: 52 weeks
Change from baseline on Hammersmith Functional Motor Scale - Expanded (HFMSE) scores at Month 12
HFMSE consists of 33 activities that can be scored one of three ways: 0 for unable to perform, 1 for performs with modification/adaptation, and 2 for performs without modification.
Measured: 52 weeks
Secondary outcomes (1)
Proportion of patients treated with GC101 who achieve motor milestone of walk alone for 5 steps at Month 12
Measured: 52 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jun 2023
- Study start1 Aug 2023
- Primary completion22 Apr 2025
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SMA IIStudies 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
- Sequential
- Masking
- None (open label)
- Enrolment
- 33 participants (estimated)
Sponsor and investigators
- Lead sponsor
- GeneCradle Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05901987
- Sponsor's protocol ID
- JLJY-GC101-SMA-003
- Status last verified
- Jun 2025
- First submitted
- 4 Jun 2023
- Last updated
- 3 Jul 2025
- Results posted
- No
- Data monitoring committee
- Yes
- 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 3 Jul 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients
- ClinicalTrials.gov ID
- NCT05901987
- Acronym / sponsor ID
- JLJY-GC101-SMA-003
- Conditions
- SMA II
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 33 participants (estimated)
- Lead sponsor
- GeneCradle IncIndustry (pharma, biotech, devices)
- Study start
- 1 Aug 2023 (actual)
- Primary completion
- 22 Apr 2025 (actual)
- Study completion
- Dec 2028 (estimated)
- First posted
- 13 Jun 2023 (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.
The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 2 (SMA 2) patients.
Detailed description
The purpose of this trial is to evaluate safety and efficacy of gene therapy drug GC101 in SMA 2 patients. Open-label, dose-escalation clinical trial of GC101 will be conducted in multiple centers in China.
GC101 will be administrated intrathecally. Short-term safety will be evaluated in 52 weeks and enter long-term follow-up study of 5 years at will. Patients will be tested at baseline and followed up on various time points.
The primary analysis for efficacy will be assessed at 12 months after treatment with GC101 on the motor milestone of stand unassisted for at least 3 seconds for patients of age between 6 and 24 months, or changes from baseline HFMSE scores for patients of age between 24 and 60 months.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Low dosing group | Experimental | Genetic: GC1011.2x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) |
| Medium dosing group | Experimental | Genetic: GC1012.4x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) |
| High dosing group | Experimental | Genetic: GC1014.8x10^14 vg/person of GC101 delivered one-time intrathecally (n=3) |
Who may qualify
- Ages
- 6 to 60 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- Between 6 months and 60 months of age on day of signing informed consent form;
- Patient with SMA Type 2 as defined by the following features:
- Patient who can sit alone but never be able to stand or walk alone ;
- The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.
Key exclusion criteria (13 listed)
- Patient who has participated in any previous gene therapy research trials;
- Patient who has received Nusinersen within 4 months and Risdiplam within 15 days before treatment;
- Patient who has AAV9 neutralizing antibody titer ≥1:200;
- Patient with a point mutation in SMN2 (c.859G>C);
- Patient who requires non-invasive ventilatory support averaging≥12 hours/day at screening, or use invasive ventilatory support or pulse oximetry < 95% saturation while awake and calm at screening;
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 |
|---|---|---|
| GC101Self-complementary AAV9 carrying a codon-optimized SMN coding sequence(coSMN1) driven by CMV enhancer and chicken β-actin promoter | Genetic | High dosing group, Low dosing group, Medium dosing group |
Primary outcome
Incidence of Treatment-Emergent Adverse Events
Time frame: 52 weeks
Frequency of treatment-related adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests
Proportion of patients who can stand unassisted for at least 3 seconds at Month 12
Time frame: 52 weeks
Change from baseline on Hammersmith Functional Motor Scale - Expanded (HFMSE) scores at Month 12
Time frame: 52 weeks
HFMSE consists of 33 activities that can be scored one of three ways: 0 for unable to perform, 1 for performs with modification/adaptation, and 2 for performs without modification.
1 secondary outcome
Proportion of patients treated with GC101 who achieve motor milestone of walk alone for 5 steps at Month 12
Time frame: 52 weeks
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 3 Jul 2025.
- Individual participant dataSharing planned: No
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Enrolling by invitation
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Inclusion Body Myositis, Myotonic Dystrophy 1
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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing GC101 in people with SMA II, run by GeneCradle Inc at 5 sites 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 6 inclusion and 13 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: under way, not looking for participants, as of the sponsor's last update on 3 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Incidence of Treatment-Emergent Adverse Events (time frame: 52 weeks). The study lists 3 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 3 Jul 2025; AzTrials last refreshed its copy on 8 Nov 2026.