Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 3 Patients

NCT06421831 | Recruiting Phase 1 DMC

• 1 other identifier: JLJY-GC101-SMA-010
• Study Type: interventional
• Target: 21
• Locations: 1 country
• Sites: 1

Brief Summary

The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 3 (SMA 3) patients.

Conditions

Spinal Muscular Atrophy Type 3

Keywords

SMA type 3

Outcome Measures

Primary Outcomes (2)

• Incidence of Treatment-Emergent Adverse Events

  Frequency of treatment-related adverse events (AEs), serious adverse events (SAEs), and changes from baseline in relevant clinical laboratory tests

  52 weeks

• Change from baseline on Hammersmith Functional Motor Scale - Expanded (HFMSE) scores at Month 12

  HFMSE consists of 33 activities that can be scored one of three ways: 0 for unable to perform, 1 for performs with modification/adaptation, and 2 for performs without modification.

  52 weeks

Secondary Outcomes (2)

• The proportion of patients whose HFMSE improvement ≥ 3 points at Month 12

  52 weeks

• Change from baseline on Revised Upper Limb Module (RULM) scores at Month 12

  52 weeks

Other Outcomes (8)

• The proportion of patients whose Clinical Global Impression (CGI) is improved at Month 12

  52 weeks

• The proportion of patients whose Motor Function Measure (MFM) is improved or maintained at Month 12

  52 weeks

• Change from baseline of Forced Vital Capacity (FVC) at Month 12 ( for patients > 6 years)

  52 weeks

Study Arms (1)

single dose cohort

EXPERIMENTAL

1.2x10\^14 vg/person of GC101 delivered one-time intrathecally

Genetic: GC101

Interventions

GC101 GENETIC

Self-complementary AAV9 carrying a codon-optimized SMN coding sequence(coSMN1) driven by CMV enhancer and chicken β-actin promoter

single dose cohort

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• ≥2 years of age on the day of signing the informed consent form;
• Genetic and clinical diagnosis of type 3 SMA with bi-allelic deletion of SMN1 of 5qSMA;
• Hammersmith Functional Motor Scale - Expanded (HFMSE) score is between 10 and 54 at screening;
• Female patients of childbearing age who are pregnant or lactating, as well as all enrolled patients （both male and female), should take effective contraceptive measures within 6 months after the treatment;
• Patients or 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.

You may not qualify if:

• Patient who has participated in any previous gene therapy research trials;
• Patient who has AAV9 neutralizing antibody titer ≥1:200;
• Patient who has received Nusinersen within 120 days and Risdiplam within 15 days before treatment;
• Patient who requires invasive or non-invasive ventilatory support averaging≥16 hours/day at screening;
• SMN2 copy numbers \>4；
• Patient who needs nasal or gastric tube feeding for eating;
• Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
• Known allergy or hypersensitivity to prednisolone or other glucocorticosteroids or their excipients
• Severe contractures at screening that interfere with either the ability to attain/demonstrate functional measures or with the ability to receive intrathecal (IT) dosing;
• Patient who has other serious diseases, such as severe cardiovascular and cerebrovascular diseases, digestive system diseases, urinary system diseases, endocrine system diseases, hematological diseases, immune system diseases, nervous system diseases (including but not limited to epilepsy, meningitis, history of convulsions or seizures, cerebrospinal fluid circulation disorders), and mental illnesses, etc.;
• Patient with previous injuries (such as upper or lower limb fractures) or surgical operations that have not fully recovered or reached a stable state;
• Vaccination no longer than 2 weeks before treatment;
• Patient who has any other condition that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.

Sponsors & Collaborators

• GeneCradle Inc: lead

Study Sites (1)

Beijing Tiantan Hospital, Capital Medical University

Beijing, Beijing Municipality, China

RECRUITING

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

GeneCradle, Inc China

CONTACT

+8613501380583; ind@bj-genecradle.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 10, 2024
• First Posted: May 20, 2024
• Study Start: May 10, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2028
• Last Updated: July 3, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)