SMA - Spinal Muscular AtrophyPhase 3NCT06971094
Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal (IT) Injectionin the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA) - Phase III
A Phase 3 study testing GC101 adeno-associated virus injection in people with SMA - Spinal Muscular Atrophy, run by GeneCradle Inc at 7 sites in China.
Trial summary
This trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received nusinersen. The primary objective of the trial is to evaluate the efficacy of GC101 in treating Type 2 SMA. Read more about this study
- Who is it for?
- Ages 2 to 12 years
- Conditions the study is for
- SMA - Spinal Muscular Atrophy
- What is being tested?
- GC101 adeno-associated virus injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 7 sitesChina
- Study dates
- 27 May 2025to 31 Dec 2026
- Phase
- Phase 3
- 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
- Patients with a confirmed diagnosis of Type 2 5q-SMA through clinical phenotype and genetic testing.
- Patients who have been receiving regular treatment with nusinersen for more than one year prior to screening.
- Patients who have not received treatment with risdiplam within 2 months prior to screening and have no plans to receive risdiplam treatment within 12 months after enrollment.
- Patients who can sit independently but cannot walk independently at the time of screening (according to the definitions of independent sitting and walking in the WHO-MGRS motor milestones scale), and have an HFMSE score of ≥10 points.
- Patients and/or their legal guardians are able to understand and are willing to comply with the requirements and procedures of the trial protocol, and voluntarily participate and sign the informed consent form
Who cannot join
- Patients with serum anti-AAV9 neutralizing antibody titers > 1:50 at the time of screening.
- Patients who have received nusinersen treatment within 2 months prior to enrollment.
- Patients with any medical conditions that may affect the interpretation of study results or pose a risk to the safety of the participants, including but not limited to organ dysfunction of any cause, acute infectious diseases, primary/acquired immunodeficiency diseases, severe cardiovascular/cerebrovascular diseases, gastrointestinal diseases, diabetes, known epilepsy, meningitis, seizure or convulsion history, or a family history of psychiatric disorders; and those with cerebrospinal fluid circulation disorders.
- Patients with severe liver injury/hepatic insufficiency of any cause, including but not limited to alanine aminotransferase (ALT), aspartate aminotransferase (AST) ≥3 times the upper limit of normal (ULN); total bilirubin (TBil) ≥1.5 times the ULN.
- Patients deemed by the investigator to have contraindications to glucocorticoid use, such as severe hypertension, diabetes, systemic infectious diseases, fungal infections, glaucoma, osteoporosis, peptic ulcer disease, tuberculosis, etc.
- Patients with contraindications to lumbar puncture or intrathecal injection therapy.
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- Patients with any medical conditions that may affect the assessment of motor function, such as severe scoliosis, severe joint contracture deformities, planned spinal correction surgery during the trial period, severe osteoporosis, or a history of fractures.
- Patients positive for hepatitis B surface antigen (HBsAg), human immunodeficiency virus (HIV) antibodies, hepatitis C virus (HCV) antibodies, or syphilis antibodies.
- Patients who have received vaccinations within 2 weeks prior to dosing.
- Patients who have previously received gene therapy or participated in any clinical trial within 3 months prior to screening.
- Patients deemed by the investigator to be unsuitable for participation in this study.
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
China7 sites, 7 recruiting
- Recruiting
The Seventh Medical Center of Chinese PLA General Hospital
Beijing, 100700
Juan Xu, 86-010-66721842, qizhongxin_gcp@163.com
Zhichun Feng
- Recruiting
Children's Medical Center of Peking University First Hospital
Beijing, 102699
Yan Liang, 86-010-64008229, jgbgs090101@126.com
Yuwu Jiang
- Recruiting
Beijing Children's Hospital, Capital Medical University
Beijing
Qian Wang, 86-010-59718709, eyjdb6380@163.com
Hui Xiong
- Recruiting
National Children's Medical Center，Shanghai Jiaotong University
Shanghai, 200127
Fulian Gong, 86-021-38087191, scmcgcp@126.com
Jiwen Wang
- Recruiting
Shenzhen Children's Hospital
Shenzhen
Cengceng Zhang, 86-15612025393, zhangcce@bj-genecradle.com
Xufeng Luo
- Recruiting
Children's Hospital of Soochow University
Suzhou
Huizhen Jin, 86-0512-80692212, sdfrygcp@163.com
Jihong Tang
- Recruiting
Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology
Wuhan, 430015
Shiying Yuan, 86-027-82308909, whet_ctr@163.com
Dan Sun
About this study
Official title: A Multicenter, Randomized, Open-Label, Standard-of-Care-Controlled, Phase III Clinical Trial to Evaluate the Safety and Efficacy of Intrathecal (IT) Injection of GC101 Adeno-Associated Virus Injection in the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA)
This trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received nusinersen. The primary objective of the trial is to evaluate the efficacy of GC101 in treating Type 2 SMA. The secondary objectives are to assess the efficacy, safety, and pharmacokinetic (PK) profile of GC101 in treating Type 2 SMA.
Read the detailed description
The trial is divided into two groups: one group will receive a single intrathecal injection of GC101 at a dose of 1.2E+14 vg per person and discontinue their previous standard-of-care treatment with nusinersen; the other group will continue their previous standard-of-care treatment with nusinersen. Participants will be randomly assigned to the trial group or the control group in a 1:1 ratio.
- Conditions
- SMA - Spinal Muscular Atrophy
- Being tested
- GC101 adeno-associated virus injection
- Keywords
- SMA, type II, AAV gene therapy, Genecradle
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GC101 adeno-associated virus injectionGenetic
Self-complementary recombinant adeno-associated viral vector (scAAV) containing a single-stranded transgene encoding a codon-optimized human SMN1 gene
| Study group | Role | What they receive |
|---|---|---|
| GC101 | Experimental | single dose of GC101 at dosage of 1.2E+14 vg per person via intrathecal injection Receives: Genetic: GC101 adeno-associated virus injection |
| Control | No intervention | Participants will continue to receive treatment according to their previous standard-of-care regimen with nusinersen. |
What is being measured
The primary outcome is the main question the study is designed to answer.
HFMSE score change from baseline
HFMSE Motor Function Assessment (Hammersmith Functional Motor Scale Expanded) is a standardized tool specifically designed to evaluate motor function in patients with spinal muscular atrophy (SMA). It includes 33 test items covering actions such as head control, sitting, standing, walking, stair climbing, jumping, as well as balance and coordination, providing a comprehensive assessment of motor function in the trunk and limbs. The maximum total score is 66 points, with higher scores indicating better motor capabilities.
Measured: 52 weeks
Secondary outcomes (6)
HFMSE score change from baseline
Measured: 26 weeks
The proportion of participants with an increase in HFMSE score of ≥3 points from baseline.
Minimal clinically important differences (MCID) were defined as an HFMSE score improvement of ≥3 points.
Measured: 26 and 52 weeks
Changes in WHO-MGRS motor milestones from baseline.
WHO-MGRS (World Health Organization Multicenter Growth Reference Study) motor development milestones include:
Sitting without support Standing with support Crawling on hands and knees Walking with support Standing alone Walking alone
Measured: 26 and 52 weeks
RULM score change from baseline.
RULM Motor Function Assessment (Revised Upper Limb Module) is a standardized tool designed to evaluate upper limb function in patients with spinal muscular atrophy (SMA). A maximum total score is 37 points. Higher scores indicate better upper limb performance.
Measured: 26 and 52 weeks
SMAIS score change from baseline.
Spinal Muscular Atrophy Independence Scale （SMAIS）is a patient- and caregiver-reported outcome measure designed to assess the level of assistance required by individuals with Type 2 and non-ambulant Type 3 spinal muscular atrophy (SMA) to perform activities of daily living. Higher scores indicate greater independence, with a range from 0 to 44
Measured: 26 and 52 weeks
The incidence of adverse events (AEs), serious adverse events (SAEs), and adverse events of special interest (AESIs).
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 posted14 May 2025
- Study start27 May 2025
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SMA - Spinal Muscular AtrophyStudies 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 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Model description
- This trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received treatment. The trial consists of two groups: one group will receive a single intrathecal injection of GC101 at a dose of 1.2E+14 vg per person and discontinue their previous standard-of-care treatment with nusinersen; the other group will continue their previous standard-of-care treatment with nusinersen. Participants will be randomly assigned to the trial group or the control group in a 1:1 ratio.
- Masking
- None (open label)
- Enrolment
- 50 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
- NCT06971094
- Sponsor's protocol ID
- JLJY-GC101-SMA-011
- Status last verified
- Jun 2025
- First submitted
- 6 May 2025
- Last updated
- 5 Jun 2025
- Results posted
- No
- Data monitoring committee
- Yes
- 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 5 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Randomized, Open-Label, Standard-of-Care-Controlled, Phase III Clinical Trial to Evaluate the Safety and Efficacy of Intrathecal (IT) Injection of GC101 Adeno-Associated Virus Injection in the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA)
- ClinicalTrials.gov ID
- NCT06971094
- Acronym / sponsor ID
- JLJY-GC101-SMA-011
- Conditions
- SMA - Spinal Muscular Atrophy
- Keywords
- SMA, type II, AAV gene therapy, Genecradle
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- GeneCradle IncIndustry (pharma, biotech, devices)
- Study start
- 27 May 2025 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 14 May 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 trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received nusinersen. The primary objective of the trial is to evaluate the efficacy of GC101 in treating Type 2 SMA. The secondary objectives are to assess the efficacy, safety, and pharmacokinetic (PK) profile of GC101 in treating Type 2 SMA.
Detailed description
The trial is divided into two groups: one group will receive a single intrathecal injection of GC101 at a dose of 1.2E+14 vg per person and discontinue their previous standard-of-care treatment with nusinersen; the other group will continue their previous standard-of-care treatment with nusinersen. Participants will be randomly assigned to the trial group or the control group in a 1:1 ratio.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- This trial employs a multicenter, randomized, open-label, standard-of-care-controlled design and plans to enroll 50 patients with Type 2 SMA aged 2 to 12 years who have previously received treatment. The trial consists of two groups: one group will receive a single intrathecal injection of GC101 at a dose of 1.2E+14 vg per person and discontinue their previous standard-of-care treatment with nusinersen; the other group will continue their previous standard-of-care treatment with nusinersen. Participants will be randomly assigned to the trial group or the control group in a 1:1 ratio.
| Arm | Type | Receives |
|---|---|---|
| GC101 | Experimental | Genetic: GC101 adeno-associated virus injectionsingle dose of GC101 at dosage of 1.2E+14 vg per person via intrathecal injection |
| Control | No intervention | –Participants will continue to receive treatment according to their previous standard-of-care regimen with nusinersen. |
Who may qualify
- Ages
- 2 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Patients with a confirmed diagnosis of Type 2 5q-SMA through clinical phenotype and genetic testing.
- Patients who have been receiving regular treatment with nusinersen for more than one year prior to screening.
- Patients who have not received treatment with risdiplam within 2 months prior to screening and have no plans to receive risdiplam treatment within 12 months after enrollment.
- Patients who can sit independently but cannot walk independently at the time of screening (according to the definitions of independent sitting and walking in the WHO-MGRS motor milestones scale), and have an HFMSE score of ≥10 points.
- Patients and/or their legal guardians are able to understand and are willing to comply with the requirements and procedures of the trial protocol, and voluntarily participate and sign the informed consent form
Key exclusion criteria (11 listed)
- Patients with serum anti-AAV9 neutralizing antibody titers > 1:50 at the time of screening.
- Patients who have received nusinersen treatment within 2 months prior to enrollment.
- Patients with any medical conditions that may affect the interpretation of study results or pose a risk to the safety of the participants, including but not limited to organ dysfunction of any cause, acute infectious diseases, primary/acquired immunodeficiency diseases, severe cardiovascular/cerebrovascular diseases, gastrointestinal diseases, diabetes, known epilepsy, meningitis, seizure or convulsion history, or a family history of psychiatric disorders; and those with cerebrospinal fluid circulation disorders.
- Patients with severe liver injury/hepatic insufficiency of any cause, including but not limited to alanine aminotransferase (ALT), aspartate aminotransferase (AST) ≥3 times the upper limit of normal (ULN); total bilirubin (TBil) ≥1.5 times the ULN.
- Patients deemed by the investigator to have contraindications to glucocorticoid use, such as severe hypertension, diabetes, systemic infectious diseases, fungal infections, glaucoma, osteoporosis, peptic ulcer disease, tuberculosis, etc.
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 |
|---|---|---|
| GC101 adeno-associated virus injectionSelf-complementary recombinant adeno-associated viral vector (scAAV) containing a single-stranded transgene encoding a codon-optimized human SMN1 gene | Genetic | GC101 |
Primary outcome
HFMSE score change from baseline
Time frame: 52 weeks
HFMSE Motor Function Assessment (Hammersmith Functional Motor Scale Expanded) is a standardized tool specifically designed to evaluate motor function in patients with spinal muscular atrophy (SMA). It includes 33 test items covering actions such as head control, sitting, standing, walking, stair climbing, jumping, as well as balance and coordination, providing a comprehensive assessment of motor function in the trunk and limbs. The maximum total score is 66 points, with higher scores indicating better motor capabilities.
6 secondary outcomes
HFMSE score change from baseline
Time frame: 26 weeks
The proportion of participants with an increase in HFMSE score of ≥3 points from baseline.
Time frame: 26 and 52 weeks
Changes in WHO-MGRS motor milestones from baseline.
Time frame: 26 and 52 weeks
RULM score change from baseline.
Time frame: 26 and 52 weeks
SMAIS score change from baseline.
Time frame: 26 and 52 weeks
The incidence of adverse events (AEs), serious adverse events (SAEs), and adverse events of special interest (AESIs).
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 5 Jun 2025.
- Individual participant dataSharing planned: Undecided
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Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
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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.
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing GC101 adeno-associated virus injection in people with SMA - Spinal Muscular Atrophy, run by GeneCradle Inc at 7 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 5 inclusion and 11 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: looking for participants now, as of the sponsor's last update on 5 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 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 phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
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?
Contact GeneCradle, Inc China (+8613501380583, ind@bj-genecradle.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
HFMSE score change from baseline (time frame: 52 weeks). 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 5 Jun 2025.