Dear parents or guardians:
Hello!
The Second Department of Pediatrics (Developmental Specialty) of the Department of Pediatrics, the Seventh Medical Center of the General Hospital of the Chinese People's Liberation Army is jointly conducting a "Multicenter, open, single-arm, single-dose escalation Phase I/IIa clinical trial to evaluate the safety, tolerability and preliminary efficacy of GC101 adeno-associated virus injection in the treatment of patients with type 1 SMA" sponsored by Beijing GeneCradle Technology Co., Ltd.
This study has been approved by the National Medical Products Administration and the Ethics Committee of our hospital to recruit 15 to 18 children with type 1 spinal muscular atrophy (SMA) nationwide. Our hospital plans to recruit 6 children and is currently recruiting.
Main inclusion criteria
If your child meets the following criteria, he/she may participate in this study:
1. SMN1 bilateral allele mutation (deletion or point mutation) genetic diagnosis of SMA, with 2 copies of SMN2 gene, and meets the clinical manifestations of type 1 SMA;
2. Age of onset < 6 months, age ≤ 6 months (≤ 180 days) on the day of injection, regardless of gender;
3. The legal guardian can understand the requirements and procedures of the study plan, voluntarily participate and sign the informed consent form;
4. No treatment with nusinersen sodium and lisapram has been used.
The research doctor will confirm whether your child can participate in this study based on the specific situation of your child.
About GC101 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 by intrathecal injection to express the SMN1 gene in motor neurons, 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. In a previous researcher-initiated clinical study (IIT) conducted by the Seventh Medical Center of the PLA General Hospital, GC101 injection has been successfully used in 18 SMA patients.
Rights of the Subjects
Whether your child participates in this clinical study is based on your wishes. Even if your child participates in this study, you still have the right to choose to withdraw at any time.
Spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular genetic disease caused by the deletion or mutation of the SMN1 gene located on chromosome 5. The carrier frequency of the SMA pathogenic gene in the Chinese population is about 1/42, and the incidence rate in newborns is about 1/10000. SMA is the number one genetic disease killer that causes death in infants under 2 years old, and is 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 5 phenotypes, among which type 1 SMA has the highest incidence, disease severity and mortality. The patient develops the disease within 6 months after birth, and manifests as limb weakness, hypotonia, swallowing and feeding difficulties, etc. Without timely and effective treatment intervention, the median survival time is 13.6 months, and most of them do not exceed 24 months.
Contact information
If you are willing to participate in this study, or want to know more information, please contact the research doctor:
Dr. Ma: 13651111080
Dr. Zhu: 18518151760
Assistant Chen: 15949428770
Or you can come to the hospital for consultation:
Hospital: The Seventh Medical Center of the General Hospital of the Chinese People's Liberation Army
Department: Department of Pediatrics, Pediatric Internal Medicine Ward 2 (Developmental Specialty)
About GeneCradle
Beijing GeneCradle Technology Co., Ltd. is a national high-tech enterprise with AAV vector delivery technology-mediated gene therapy drug development 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, hereditary metabolic diseases, lysosomal diseases and ophthalmic diseases. By promoting the development and clinical application of gene drugs for rare diseases, the company aims to gain a deeper understanding of life and health, and to transition gene therapy technologies and products from rare diseases to the treatment and rehabilitation of chronic diseases and other major diseases.