On July 10, 2024, the Phase I/II clinical trial kick-off meeting for the treatment of type 3 spinal muscular atrophy (SMA) patients with GC101 adeno-associated virus injection, an AAV gene therapy drug independently developed by Beijing GeneCradle Technology Co., Ltd. (hereinafter referred to as "GeneCradle"), was successfully held at the Beijing Tiantan Hospital affiliated to Capital Medical University, the leader of the group. The main researchers, Director Zhang Zaiqiang of the Department of Neurology, Director Wang Yajie of the Department of Pediatrics, the clinical trial institution office staff of Beijing Tiantan Hospital affiliated to Capital Medical University, members of the neurology team, members of the pediatric team, and Dr. Dong Xiaoyan, general manager of the sponsor GeneCradle, and relevant persons in charge of clinical operations and medical affairs attended the meeting.

This study is the first registered clinical trial for type 3 spinal muscular atrophy (SMA) in China. At the launch meeting, participants fully discussed key contents such as the trial plan and clinical operation process to ensure the smooth implementation of the trial plan. The research center, Beijing Tiantan Hospital affiliated to Capital Medical University, and the sponsor GeneCradle will have a common goal, follow GCP specifications, pay attention to details, ensure quality, and efficiently complete the trial project, so as to benefit more spinal muscular atrophy patients as soon as possible.

Recruitment Information

Research title: An open, multicenter, single-arm Phase I/II clinical trial to evaluate the safety and efficacy of intrathecal (IT) injection of GC101 adeno-associated virus injection in the treatment of patients with type 3 spinal muscular atrophy (SMA)

Research Center: Beijing Tiantan Hospital, Capital Medical University

Main researchers: Zhang Zaiqiang, Wang Yajie

Main recruitment conditions:

1) At the time of screening (when signing the informed consent form), age ≥ 2 years old, regardless of gender;
2) Meet the genetic and clinical diagnostic criteria for type 3 SMA, and be diagnosed with 5qSMA with SMN1 biallelic pathogenic mutations during the screening period;
3) Patients who have not received nusinersen injection within 120 days before administration or disease-modifying treatment such as lisapram within 15 days;
4) Patients and/or their guardians can understand and are willing to comply with the requirements and procedures of the study protocol, and voluntarily participate and sign the informed consent form.

Contact information:

Beijing Tiantan Hospital Affiliated to Capital Medical University

Doctor Zhang: 15811156758

About Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular genetic disease. The carrier frequency of its pathogenic gene in the Chinese population is about 1/42, and the incidence rate in newborns is about 1/10,000. It has been included in the "First List of Rare Diseases" jointly issued by the National Health Commission and other five departments. According to the severity of the disease and the age of onset, SMA is mainly divided into five phenotypes. Type 3 SMA is also called Kugelberg-Welander disease. Patients show initial symptoms in early childhood, but usually have significant loss of walking ability in adolescence. The main manifestations are progressive proximal muscle weakness, which is more severe in the legs than in the arms. The ability to walk may be retained, but there are considerable difficulties due to abnormal gait and muscle atrophy/weakness. Some patients have irreversibly lost the ability to walk. Patients with type 3 SMA may have multiple fasciculations, and later symptoms such as scoliosis, joint deformities, and respiratory insufficiency.

About GC101 Adeno-Associated Virus Injection

GC101 adeno-associated virus injection is a recombinant adeno-associated virus type 9 vector (rAAV9) carrying a normal SMN1 gene expression unit. It is administered once via intrathecal injection to express the SMN1 gene in motor neuron cells, thereby improving the function of affected cells such as motor neurons. Assisted by respiratory and motor rehabilitation training, it can improve the respiratory and motor abilities of SMA patients.

About GeneCradle

Beijing GeneCradle Technology Co., Ltd. is a national high-tech enterprise with the development of gene therapy drugs mediated by AAV vector delivery technology as its core business. Its mission is to promote China's rare disease gene drugs from basic to clinical and market, benefiting patients and families. The company focuses on the development of gene therapy drugs in the fields of hereditary neuromuscular diseases, genetic metabolic diseases, lysosomal diseases and ophthalmic diseases. By promoting the development and clinical application of rare disease gene drugs, it has a deeper understanding of life and health, and has transitioned gene therapy technologies and products from rare diseases to the treatment and rehabilitation of chronic diseases and other major diseases.