Spinal Muscular Atrophy (SMA)Early Phase 1NCT06888661
Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients With Spinal Muscular Atrophy
A Early Phase 1 study testing EXG001-307 injection in people with Spinal Muscular Atrophy (SMA), run by Guangzhou Jiayin Biotech Ltd at 2 sites in China.
Trial summary
The purpose of this trial is to evaluate safety and efficacy of intrathecal delivery of EXG001-307 as a treatment of spinal muscular atrophy . Read more about this study
- Who is it for?
- Ages 1 day to 2 years
- Conditions the study is for
- Spinal Muscular Atrophy (SMA)
- What is being tested?
- EXG001-307 injection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 2 sitesChina
- Study dates
- 10 Mar 2025to 30 Dec 2026
- Phase
- Early Phase 1
- 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 1 day to 2 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- On the day of dosing, type 1 SMA age ≤180 days, type 2 SMA age > 180 days ≤2 years, male or female.
- Clinical history and physical signs are consistent with SMA manifestations; SMA was diagnosed by bilateral allelic SMN1 mutation (deletion or point mutation). Type 1 has 2 copies of SMN2 gene. Type 2 has ≤3 copies of SMN2 gene.
- 4.The subject's legal guardian understands the purpose, possible risks and interests of the study, agrees to participate in the study, completes all study procedures, tests and visits, and voluntarily signs the informed consent form.
- 5.During the study, the subject's legal guardian was willing to perform standard treatment requirements such as nasogastric feeding, noninvasive mechanical ventilation, and expectoration machine as recommended by the investigator.
Who cannot join
- The presence of contraindications to lumbar puncture (including, but not limited to, signs or symptoms of skin infection at the administration site and elevated intracranial pressure), the receipt of any active intrathecal therapy, the presence of an implantable shunt tube for draining CSF, the presence of an implantable central nervous system (CSF) cannula, or any condition that interferes with CSF collection.
- Imaging shows severe scoliosis (defined as curvature of the spine ≥ 50°).
- Gestational age at birth was less than 35 weeks (245 days).
- At screening, the subject had an oxygen saturation < 95% while awake or sleeping and did not receive any supplemental oxygen or respiratory support.
- Requirement of invasive ventilation or tracheotomy, or current use of noninvasive ventilatory support for an average of ≥ 12 hours/day.
- Weighed below the 3rd percentile by age according to the WHO Child Growth Criteria (WHO 2009).
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- Before administration, if the subject has not received or delayed vaccination according to the current month-old national vaccination plan, it will significantly affect the safety of the subject as assessed by the investigator and the medical manager of the project team;
- Active viral infections (including HIV, hepatitis B or C seropositivity, torch virus, Epstein-Barr virus, and syphilis).
- Serious non-respiratory disease within 2 weeks prior to screening.
- EXG001-307 has had an upper respiratory tract infection or lower respiratory tract infection within 4 weeks prior to administration, and still has relevant clinical symptoms or is still in an unstable state of disease.
- Other severe infections or illnesses within 4 weeks prior to administration of EXG001-307.
- A history of bacterial meningitis or brain or spinal cord disease, including tumors, or abnormalities found on an MRI or computed tomography scan that interfere with a lumbar puncture procedure or cerebrospinal fluid circulation.
- There are currently clinically significant heart disease or electrocardiogram abnormalities that may affect the safety assessment of subjects.
- Known hypersensitivity to prednisolone, other glucocorticoids, or its excipients；Or cannot tolerate oral or gastrostomy tube administration of corticosteroids.
- Immunosuppressive therapy (eg, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, rituximab) other than protocol-required prophylaxis within 3 months prior to dosing.
- Immunomodulatory drugs (eg, thymosin, interferon, etc.) are being used to treat myopathy, neuritis, diabetes mellitus (eg, immunosuppressants, glucocorticoids, insulin).
- Prior use of other SMA therapeutic agents (e.g., nosinasenat, rispolam, and Zolgensma, etc.) or participated in clinical studies with other SMA therapeutic agents.
- Patients with type 2 SMA who had undergone scoliosis surgery or coxopexy in the 12 months prior to screening or were scheduled to undergo scoliosis surgery or coxopexy in the next 52 weeks.
- Major surgery is expected during study treatment.
- Other circumstances that, in the judgment of the investigator, are not suitable for participation in this study.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
China2 sites
Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, 201100
The Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, 201100
About this study
Official title: An Open-label, Dose-escalation Clinical Trial to Assess the Safety and Efficacy of EXG001-307 After Intrathecal Injection in Patients With Spinal Muscular Atrophy
The purpose of this trial is to evaluate safety and efficacy of intrathecal delivery of EXG001-307 as a treatment of spinal muscular atrophy .
- Conditions
- Spinal Muscular Atrophy (SMA)
- Being tested
- EXG001-307 injection
- Keywords
- SMA, AAV9, gene therapy
- 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.
EXG001-307 injectionBiological
non-replicating, rAAV vector based on AAV9 containing cDNA encoding the human SMN protein.
| Study group | Role | What they receive |
|---|---|---|
| Dose escalation- Cohort 1 | Experimental | Dose 1 Intrathecal administration dose 1 of EXG001-307 to SMA patient (type I \&type II) Receives: Biological: EXG001-307 injection |
What is being measured
The primary outcome is the main question the study is designed to answer.
To evaluate the safety and tolerability of EXG001-307 following a single intrathecal injection
Adverse events (AES), serious adverse events (SAEs), dose-limited toxicity types, severity, incidence, and drug relevance were evaluated after treatment.（Evaluate through examinations such as electrocardiogram, echocardiography, blood routine, blood biochemistry, coagulation function, etc. conducted during each visit）
Measured: up to 52 weeks after treatment
Secondary outcomes (3)
Evaluate the improvement of motor function in subjects after treatment: assessed with the BSID-III scale
The achievement of new milestones in the BSID-III
Measured: up to 52 weeks after treatment
Evaluate the improvement of motor function in subjects after treatment: assessed with the CHOP-INTEND scale
Evaluate the changes in subjects' scores compared to baseline and the proportion of subjects with scores above 40 using the CHOP-INTEND scale.
Measured: up to 52 weeks after treatment
Evaluate the improvement of motor function in subjects after treatment: assessed with the HINE-2 scale
Evaluate the achievement of motor milestones by the Hammersmith Infant Neurological Examination (HINE-2) Module 2
Measured: up to 52 weeks after treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2025
- Study start10 Mar 2025 (estimated)
- Primary completionMar 2026 (estimated)
- Study completion30 Dec 2026 (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 (SMA)Studies 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
- Early Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Guangzhou Jiayin Biotech Ltd
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06888661
- Sponsor's protocol ID
- EXG001-307-011
- Status last verified
- Mar 2025
- First submitted
- 3 Mar 2025
- Last updated
- 21 Mar 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 21 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label, Dose-escalation Clinical Trial to Assess the Safety and Efficacy of EXG001-307 After Intrathecal Injection in Patients With Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT06888661
- Acronym / sponsor ID
- EXG001-307-011
- Conditions
- Spinal Muscular Atrophy (SMA)
- Keywords
- SMA, AAV9, gene therapy
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 4 participants (estimated)
- Lead sponsor
- Guangzhou Jiayin Biotech LtdIndustry (pharma, biotech, devices)
- Study start
- 10 Mar 2025 (estimated)
- Primary completion
- Mar 2026 (estimated)
- Study completion
- 30 Dec 2026 (estimated)
- First posted
- 21 Mar 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.
The purpose of this trial is to evaluate safety and efficacy of intrathecal delivery of EXG001-307 as a treatment of spinal muscular atrophy .
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Dose escalation- Cohort 1 | Experimental | Biological: EXG001-307 injectionDose 1 Intrathecal administration dose 1 of EXG001-307 to SMA patient (type I \&type II) |
Who may qualify
- Ages
- 1 day to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- On the day of dosing, type 1 SMA age ≤180 days, type 2 SMA age > 180 days ≤2 years, male or female.
- Clinical history and physical signs are consistent with SMA manifestations; SMA was diagnosed by bilateral allelic SMN1 mutation (deletion or point mutation). Type 1 has 2 copies of SMN2 gene. Type 2 has ≤3 copies of SMN2 gene.
- 4.The subject's legal guardian understands the purpose, possible risks and interests of the study, agrees to participate in the study, completes all study procedures, tests and visits, and voluntarily signs the informed consent form.
- 5.During the study, the subject's legal guardian was willing to perform standard treatment requirements such as nasogastric feeding, noninvasive mechanical ventilation, and expectoration machine as recommended by the investigator.
Key exclusion criteria (20 listed)
- The presence of contraindications to lumbar puncture (including, but not limited to, signs or symptoms of skin infection at the administration site and elevated intracranial pressure), the receipt of any active intrathecal therapy, the presence of an implantable shunt tube for draining CSF, the presence of an implantable central nervous system (CSF) cannula, or any condition that interferes with CSF collection.
- Imaging shows severe scoliosis (defined as curvature of the spine ≥ 50°).
- Gestational age at birth was less than 35 weeks (245 days).
- At screening, the subject had an oxygen saturation < 95% while awake or sleeping and did not receive any supplemental oxygen or respiratory support.
- Requirement of invasive ventilation or tracheotomy, or current use of noninvasive ventilatory support for an average of ≥ 12 hours/day.
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 |
|---|---|---|
| EXG001-307 injectionnon-replicating, rAAV vector based on AAV9 containing cDNA encoding the human SMN protein. | Biological | Dose escalation- Cohort 1 |
Primary outcome
To evaluate the safety and tolerability of EXG001-307 following a single intrathecal injection
Time frame: up to 52 weeks after treatment
Adverse events (AES), serious adverse events (SAEs), dose-limited toxicity types, severity, incidence, and drug relevance were evaluated after treatment.（Evaluate through examinations such as electrocardiogram, echocardiography, blood routine, blood biochemistry, coagulation function, etc. conducted during each visit）
3 secondary outcomes
Evaluate the improvement of motor function in subjects after treatment: assessed with the BSID-III scale
Time frame: up to 52 weeks after treatment
Evaluate the improvement of motor function in subjects after treatment: assessed with the CHOP-INTEND scale
Time frame: up to 52 weeks after treatment
Evaluate the improvement of motor function in subjects after treatment: assessed with the HINE-2 scale
Time frame: up to 52 weeks after treatment
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 21 Mar 2025.
- Individual participant dataSharing planned: No
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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.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing EXG001-307 injection in people with Spinal Muscular Atrophy (SMA), run by Guangzhou Jiayin Biotech Ltd at 2 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 4 inclusion and 20 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 21 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 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?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
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?
To evaluate the safety and tolerability of EXG001-307 following a single intrathecal injection (time frame: up to 52 weeks after treatment). 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 21 Mar 2025.