Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients

NCT05824169 | Recruiting Phase 1 DMC

• 1 other identifier: JLJY-GC101-SMA-001
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 4

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 1 (SMA 1) patients.

Conditions

Spinal Muscular Atrophy

Keywords

Type 1

Outcome Measures

Primary Outcomes (2)

• Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]

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

  when patient reaches 18 months of age

• Proportion of patients treated with GC101 who achieve motor milestone of sit unassisted for at least 10 seconds at 18 months of age

  when patient reaches 18 months of age

Secondary Outcomes (3)

• Ability to thrive

  when patient reaches 18 months of age

• Changes from baseline Children's hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score

  when patient reaches 18 months of age

• Proportion of event-free survival patients

  when patient reaches 14 months of age

Other Outcomes (1)

• Proportion of patients who achieve the World Health Organization (WHO) Multicenter Growth Reference Study (MGRS) motor milestones

  when patient reaches 18 months of age

Study Arms (2)

Low dosage group

EXPERIMENTAL

2.4x10\^14 vg/person of GC101 delivered one-time intrathecally (n=3)

Genetic: GC101

High dosage group

EXPERIMENTAL

4.8x10\^14 vg/person of GC101 delivered one-time intrathecally (n=3)

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

High dosage group; Low dosage group

Eligibility Criteria

• Age: 0 Months - 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Six months of age and younger on day of vector infusion with Type 1 SAM 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 SMN2;
• Onset of disease before 6 months of age
• 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.

You may not qualify if:

• Patient who has participated in a previous gene therapy research trials;
• Patient who has received Nusinersen and Risdiplam treatment;
• Patient who has AAV9 neutralizing antibody titer ≥1:200;
• Patient who requires non-invasive ventilatory support averaging≥16 hours/day;
• Patient with a point mutation in SMN2 (c.859G\>C);
• Patient who requires non-invasive ventilatory support averaging≥16 hours/day at screening;
• Patient who 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 \<183x10\^9/L or 614x10\^9/L;
• 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.

Sponsors & Collaborators

• GeneCradle Inc: lead

Study Sites (4)

Peking University， First Hospital, Department of Pediatrics

Beijing, 100034, China

RECRUITING

Bayi Children's Hospital, Seventh Medical Center, PLA general hospital

Beijing, 100700, China

RECRUITING

Shengjing Hospital of China Medical University

Shenyang, 110004, China

RECRUITING

Children's Hospital of Soochow University

Suzhou, 215025, China

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Central Study Contacts

GeneCradle, Inc. China

CONTACT

86-13501380583; ind@bj-genecradle.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 10, 2023
• First Posted: April 21, 2023
• Study Start: February 25, 2023
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: July 3, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (4)