A Clinical Study Evaluating the Safety and Efficacy of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1

A Multicenter, Open, Dose-escalation Clinical Study Evaluating the Safety, Initial Efficacy, and Immunogenicity of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1

This is a clinical study to evaluate the safety and efficacy of gene therapy drug SKG0201 Injection in patients with spinal muscular atrophy Type 1 (SMA 1).

Study Overview

• Status: Active, not recruiting
• Conditions: Spinal Muscular Atrophy 1
• Intervention / Treatment: Genetic: SKG0201 Injection

Detailed Description

This is a multicenter, open, dose-escalation clinical study to evaluate the safety, initial efficacy, and immunogenicity of SKG0201 injection in patients with spinal muscular atrophy type 1 (SMA 1).

• Study Type: Interventional
• Enrollment (Estimated): 12
• Phase: Not Applicable

Contacts and Locations

Study Locations

• China
  • Shanghai, China, 200092
    • Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine
  • Shanghai, China
    • National Children's Medical Center, Children's Hospital of Fudan University
  • Sichuan
    • Chengdu, Sichuan, China
      • West China Sencond Hospital, Sichuan University / West China women's and children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

1. Type 1 SMA, defined by bi-allelic mutations in the SMN1 gene.
2. Age 180 days or younger at day of infusion.
3. Clinical history and signs are consistent with type I SMA, that is hypotonia on clinical examination, with delay in motor skills, poor head control, rounded shoulder posture, and joint hypermobility.
4. The legal guardian of the subject understands the purpose of the study, the possible risks and rights of the study, agrees that the subject can participate in the study, complete all research steps, tests and visits, and sign the ICF voluntarily.
5. During the study period, according to the change of the subject's condition, the subject's legal guardian is willing to perform standard treatment requirements as suggested by the researcher.

Exclusion Criteria:

1. Pulse oximetry < 96% saturation at screening while the patient is awake or asleep without any supplemental oxygen or respiratory support.
2. Weight-for-age below the 3rd percentile for the same sex and age based on WHO Child Growth Standards (WHO 2006).
3. Active viral infection with significant signs or symptoms and require systematic hospitalization.
4. In the presence of other severe infections or diseases.
5. Known allergy to prednisolone, other glucocorticoids, or their excipients.
6. Clinically significant abnormal laboratory values prior to administration.
7. Previously used other SMA drugs (such as Spinraza, Evrysdi, Zolgensma, etc.) or participated in clinical studies of other SMA drugs.
8. Had received previous or anticipated major surgical procedures during the study assessment period.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Dose-escalation; SKG0201 one-time deliver	Genetic: SKG0201 Injection; SKG0201 is a recombinant adeno-associated virus (rAAV) vector-based in vivo gene therapeutic product.; Other Names: SKG0201

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of AEs and SAEs	AEs: adverse events; SAEs: serious Adverse events	18 months of age
Incidence and characteristics of DLT	DLT: dose-limiting toxicity	4 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Survival rate	Survival is defined as avoidance of either death or permanent ventilation.	14 months of age
CHOP-INTEND score changes from baseline	CHOP-INTEND (Children's hospital of Philadelphia Infant Test of Neuromuscular Disorders) score ranges from 0 to 64 with higher scores indicating higher motor function.	24 weeks
Proportion of subjects who achieve developmental milestones with improvement in exercise intensity and function assessed according to BSID-III	Developmental milestones are defined according to BSID-III (Bayley Scales of Infant and Toddler Development Third Edition) criteria.	24 weeks

Collaborators and Investigators

• Sponsor: Kun Sun
• Investigators: Principal Investigator: Kun Sun, Doctor, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine; Principal Investigator: Yongguo Yu, Doctor, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Study record dates

Study Major Dates

• Study Start (Actual): June 25, 2023
• Primary Completion (Estimated): December 1, 2025
• Study Completion (Estimated): December 1, 2025

Study Registration Dates

• First Submitted: December 19, 2023
• First Submitted That Met QC Criteria: December 19, 2023
• First Posted (Actual): January 5, 2024

Study Record Updates

• Last Update Posted (Actual): November 21, 2025
• Last Update Submitted That Met QC Criteria: November 18, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: SMA 1
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Spinal Muscular Atrophies of Childhood
• Other Study ID Numbers: SKG0201-001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No