Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 2 Patients

Plain-language summary

This Phase 1/2 study evaluates the safety and efficacy of intrathecal delivery of the gene therapy drug GC101 as a treatment for spinal muscular atrophy (SMA) Type 2. Participants must be between 6 and 60 months of age on the day the informed consent form is signed. Eligibility requires a diagnosis of SMA confirmed by gene mutation analysis showing bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

PHASE1/PHASE2

Status

Active, not recruiting

Sponsor

GeneCradle Inc

Intervention

GC101

Start date

8/1/2023

Estimated completion

12/1/2028

Countries

China

Related genes

Locations

• Beijing, China
• Beijing, China
• Chengdu, China
• Chongqing, China
• Wuhan, China

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

* 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.

Exclusion Criteria:

* 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;
* 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.