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Spinal Muscular Atrophy Type IPhase 1/2NCT05614531

Clinical Trial to Assess the Safety and Efficacy of EXG001-307 in Patients with Spinal Muscular Atrophy Type 1

A Phase 1/2 study testing EXG001-307 injection in people with Spinal Muscular Atrophy Type I, run by Guangzhou Jiayin Biotech Ltd at 2 sites in China.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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Trial summary

The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of EXG001-307 as a treatment of spinal muscular atrophy Type 1 (SMN1). Read more about this study

Who is it for?
Ages 1 day to 180 days
Conditions the study is for
Spinal Muscular Atrophy Type I
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
12 participants
Where
2 sitesChina
Study dates
16 Feb 2023to Aug 2025
Phase
Phase 1/2
Are there results?
None posted in the registry

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 180 days
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

  • SMA was diagnosed by a bilaterally allelic SMN1 mutation (deletion or point mutation) gene with 2 copies of the SMN2 gene.
  • On the day of dosing, the subject ' s age did not exceed postnatal Day 180.
  • The clinical history and signs were consistent with type 1 SMA manifestations, i.e. hypotonia, delayed motor function development, poor head control, round shoulder posture, and joint hypermobility.
  • 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.
  • 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

  • Gestational age at birth was less than 35 weeks (245 days).
  • At screening, the subject had an oxygen saturation < 96% 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 ≥ 16 hours/day.
  • Weighed below the 3rd percentile by age according to the WHO Child Growth Criteria (WHO 2009).
  • 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, COVID-19, hepatitis B or C seropositivity, torch virus, Epstein-Barr virus, and syphilis).
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  • Serious non-respiratory disease within 2 weeks prior to screening.
  • Upper respiratory tract infection or lower respiratory tract infection within 4 weeks prior to screening.
  • Current presence of other severe infections or diseases.
  • Known cardiac disease or ECG abnormalities that are clinically significant.
  • Known hypersensitivity to prednisolone, other glucocorticoids, or its excipients.
  • 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).
  • Anti-AAV9 antibody titer > 1: 50 (as determined by ECL). If the potential subject has an anti-AAV9 antibody titer > 1: 50, it can be retested during the screening period. If the anti-AAV9 antibody titer is ≤ 1: 50 at the retest, the subject may continue to participate in the screening.
  • Clinically significant abnormal laboratory values (GGT, ALT, and AST > 2.5 × ULN, bilirubin ≥ 3.0 mg/dL, creatinine ≥ 1.0 mg/dL, hemoglobin < 8 or > 18 g/dL; white blood cell count > 20,000/cm3; platelet count < 100,000/cm3).
  • Prior use of other SMA therapeutic agents (e.g., nosinasenat, rispolam, and Zolgensma, etc.) or participated in clinical studies with other SMA therapeutic agents (including but not limited to the above 3 drugs).
  • 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.

China2 sites

  • The Children'S Hospital Zhejiang University of Medicine

    Hangzhou, Zhejiang, 310051

  • The Children's Hospital of Fudan University

    Shanghai, Shanghai Municipality, 201100

Other trials in China

About this study

Official title: A Multicenter, Nonrandomized, Open-label,Dose Escalation Clinical Trial to Assess the Safety and Efficacy of EXG001 307 After Intravenous Injection in Patients with Spinal Muscular Atrophy Type 1

The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of EXG001-307 as a treatment of spinal muscular atrophy Type 1 (SMN1).

Read the detailed description

The study will evaluate safety and efficacy of gene therapy in spinal muscular atrophy Type 1 (SMA1) patients. SMA is caused by low levels of the survival motor neuron (SMN) protein, and affects all muscles in the body. There is no effective treatment for SMA and current drug therapy has been unsuccessful in stabilizing or reversing this disease. Only supportive care is currently possible.

Open-label, dose-escalation clinical trial of EXG001-307 injected intravenously through a peripheral limb vein. Short-term safety will be evaluated over a 1.5 year period. Patients will be tested at baseline and return for follow up visits on days 14, 21, 30, followed by once every month through 12 months post dose, and then every three months through a year and a half post infusion. Unscheduled visits may occur if the PI determines that they are necessary.

The primary analysis for efficacy will be assessed when all patients reach 18 months of age (a database lock will be performed at the time point at which all patients reach 18 months of age). A follow-up safety analysis will be completed at the time point at which the last patient reaches 18 months of age after post-dose.

Upon completion of the 1.5-year study period, patients will be monitored annually as per standard of care for up to 5 years.

Being tested
EXG001-307 injection
Keywords
SMA，SMA1
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.

  • EXG001-307 injectionGenetic

    non-replicating, rAAV vector based on AAV9 containing cDNA encoding the human SMN protein.

Study groups in NCT05614531
Study groupRoleWhat they receive
Dose escalation- Cohort 1Experimentaldose 1 of EXG001-307 delivered one-time through a venous catheter inserted into a peripheral vein (n=3~6)
Receives: Genetic: EXG001-307 injection
Dose escalation-Cohort 2Experimentaldose 2 of EXG001-307 delivered one-time through a venous catheter inserted into a peripheral vein (n=6~12)
Receives: Genetic: EXG001-307 injection
Dose escalation-Cohort 3Experimentaldose 3 of EXG001-307 delivered one-time through a venous catheter inserted into a peripheral vein (n=3~6)
Receives: Genetic: EXG001-307 injection

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. To evaluate the safety and tolerability of EXG001-307 following a single intravenous infusion

    including type and incidence of AE, SAE, AESI, vital signs, physical/neurological examination, immunogenicity, virology, injection/infusion site reactions, 12-lead electrocardiogram, and safety laboratory results recorded

    Measured: During each visit

Secondary outcomes (2)

  1. Patients number who survival at 14 month of age

    survival at 14 months of age was defined as the number of participants who did not die, did not require permanent ventilation (defined as absence of acute reversible disease [excluding perioperative ventilation], requiring tracheotomy or respiratory assistance with non-invasive ventilation support for ≥16 hours per day for ≥14 consecutive days) and did not withdraw from the study by 14 months of age.

    Measured: up to 14 month of age

  2. Number of patients who were able to sit unsupported for ≥30 seconds

    According to the Bailey Scale of Infant and Child Development Version 3 (BSID-III) ,sit unsupported as a participant who sits up straight with head erect for at least 30 seconds; participant does not use arms or hands to balance body or support position, evaluation procedure will confirmed by video recording

    Measured: From Day 1 up to 18 Months of Age Visit

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted14 Nov 2022
  2. Study start16 Feb 2023
  3. Primary completionAug 2025 (estimated)
  4. Study completionAug 2025 (estimated)

Resources

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
Single group
Masking
None (open label)
Enrolment
12 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05614531
Sponsor's protocol ID
EXG001-307-102
Other IDs
2022LP00989
Status last verified
Sep 2024
First submitted
2 Nov 2022
Last updated
19 Sep 2024
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Song C, Wang Q, Zhu P, Li J, Dai L, Hu W, Yang W, Zhang R, Wang D, Li Z, Chen S, Wang L, Ye G, Wu Z. Efficacy and preliminary safety assessment of EXG001-307 AAV gene therapy for spinal muscular atrophy. Mol Ther Methods Clin Dev. 2025 Apr 18;33(2):101475. doi: 10.1016/j.omtm.2025.101475. eCollection 2025 Jun 12.

    PubMed 40458203

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing EXG001-307 injection in people with Spinal Muscular Atrophy Type I, 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 5 inclusion and 18 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: status not confirmed, as of the sponsor's last update on 19 Sep 2024. 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 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?

Results are not available in the source record.

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 intravenous infusion (time frame: During each visit). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT05614531, which also lists 1 linked publication.

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 19 Sep 2024.

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