Gene therapy for treating Type 2 Spinal Muscular Atrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This trial evaluates the safety and efficacy of GC101 gene therapy administered via intrathecal injection in children aged 2 to 12 years with Type 2 Spinal Muscular Atrophy (SMA) who have previously received nusinersen. It is a multicenter, randomized, open-label, standard-of-care-controlled study involving 50 participants. The trial compares the effects of a single injection of GC101 against continued treatment with nusinersen, focusing on efficacy, safety, and pharmacokinetics. Participants will be randomly assigned to either the treatment or control group.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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

Exclusion Criteria:

* 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.
* 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.

Where it's running

• The Seventh Medical Center of Chinese PLA General Hospital
  Beijing, China Recruiting
• Children's Medical Center of Peking University First Hospital
  Beijing, China Recruiting
• Beijing Children's Hospital, Capital Medical University
  Beijing, China Recruiting
• National Children's Medical Center，Shanghai Jiaotong University
  Shanghai, China Recruiting
• Shenzhen Children's Hospital
  Shenzhen, China Recruiting
• Children's Hospital of Soochow University
  Suzhou, China Recruiting

Study contacts

• Study coordinator: GeneCradle, Inc China
• Email: ind@bj-genecradle.com
• Phone: +8613501380583

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.