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

Phase III Trial: GC101 Gene Therapy for Type 2 Spinal Muscular Atrophy (SMA)

ClinicalTrials.gov Identifier: NCT06971094
Sponsor: GeneCradle Inc.
Study Title: Safety and Efficacy Evaluation of GC101 Gene Therapy via Intrathecal Injection in Type 2 SMA
Study Status: Recruiting
Study Start Date: May 12, 2025 (Estimated)
Primary Completion Date: December 31, 2026 (Estimated)
Study Completion Date: December 31, 2026 (Estimated)

🔬 Objective

The objective of this study is to evaluate the safety, efficacy, and pharmacokinetics of GC101, a gene therapy that uses a self-complementary adeno-associated virus (scAAV) carrying a codon-optimized SMN1 gene, delivered via intrathecal injection in children with Type 2 SMA.

🧪 Study Design

• Type: Interventional (Phase III)

• Model: Randomized, parallel-assignment

• Masking: None (Open-label)

• Control: Standard-of-care with nusinersen

• Enrollment: 50 participants (estimated)

💉 Intervention Arms

1. GC101 Arm (Experimental):

   • Single intrathecal injection of GC101 (1.2×10¹⁴ vg per patient)

   • Discontinue prior nusinersen treatment

2. Control Arm:

   • Continue standard-of-care nusinersen treatment

📈 Outcome Measures

Primary Endpoint:

• Change in HFMSE (Hammersmith Functional Motor Scale Expanded) score at 52 weeks

Secondary Endpoints:

• HFMSE score change at 26 weeks

• % of participants with ≥3-point increase in HFMSE

• WHO-MGRS milestone achievements (sitting, walking, crawling)

• RULM (upper limb motor) and SMAIS (independence) scores at 26 & 52 weeks

• Incidence of adverse events (AEs, SAEs, AESIs)

✅ Inclusion Criteria

• Age 2–12 years, with genetically confirmed Type 2 5q-SMA

• Received nusinersen for >1 year

• No risdiplam within 2 months before screening

• Can sit independently but not walk

• HFMSE score ≥10

• Informed consent from patient/legal guardian

❌ Exclusion Criteria

• Anti-AAV9 antibody titer >1:50

• Recent nusinersen (<2 months)

• Comorbidities like epilepsy, cerebrospinal fluid disorders, severe scoliosis

• Positive for HIV, HCV, HBV, or syphilis

• Severe hepatic impairment (ALT/AST ≥3x ULN)

• Contraindications to lumbar puncture or glucocorticoids

• Gene therapy or other trial participation within 3 months

🏥 Participating Locations in China

• The Seventh Medical Center of PLA General Hospital, Beijing

• Peking University First Hospital, Beijing

• Beijing Children’s Hospital

• National Children’s Medical Center, Shanghai

• Shenzhen Children’s Hospital

• Children’s Hospital of Soochow University, Suzhou

• Wuhan Children’s Hospital, Wuhan

📞 Contact for Participation

GeneCradle Inc. (China)
📧 info@cancerfax.com
📞 +86 182 1759 2149

🌐 Why This Matters

GC101 aims to replace the missing SMN1 gene in Type 2 SMA patients with a single-dose intrathecal injection. This study could redefine treatment by offering a long-lasting, potentially one-time therapy alternative to ongoing maintenance drugs like nusinersen.

🟢 Join the Trial / Learn More

CancerFax helps patients explore participation in advanced gene therapy clinical trials worldwide.
📩 www.cancerfax.com | ✉️ info@cancerfax.com | 📞 +86 182 1759 2149

Nishant Mittal (PhD)

+ postsBio ⮌

Dr. Nishant Mittal is a highly accomplished researcher with over 13 years of experience in the fields of cardiovascular biology and cancer research. His career is marked by significant contributions to stem cell biology, developmental biology, and innovative research techniques.

Research Highlights

Dr. Mittal's research has focused on several key areas:

1) Cardiovascular Development and Regeneration: He studied coronary vessel development and regeneration using zebrafish models1.

2) Cancer Biology: At Dartmouth College, he developed zebrafish models for studying tumor heterogeneity and clonal evolution in pancreatic cancer.
3) Developmental Biology: His doctoral work at Keio University involved identifying and characterizing medaka fish mutants with cardiovascular defects.

4) Stem Cell Research: He investigated the effects of folic acid on mouse embryonic stem cells and worked on cryopreservation techniques for hematopoietic stem cells.

Publications and Presentations

Dr. Mittal has authored several peer-reviewed publications in reputable journals such as Scientific Reports, Cardiovascular Research, and Disease Models & Mechanisms1. He has also presented his research at numerous international conferences, including the Stanford-Weill Cornell Cardiovascular Research Symposium and the Weinstein Cardiovascular Development Conference.

In summary, Dr. Nishant Mittal is a dedicated and accomplished researcher with a strong track record in cardiovascular and cancer biology, demonstrating expertise in various model systems and a commitment to advancing scientific knowledge through innovative research approaches.

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  Darolutamide is approved by the USFDA for metastatic castration-sensitive prostate cancer

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• May 27th, 2025