At present, the first registered investigational drug of VGN-R09b independently developed and produced by Shanghai Vitalgen BioPharma Co., Ltd. and its wholly-owned subsidiary Shanghai TaiChang Biotechnology Co., Ltd. (hereinafter referred to as “the company”) in children with aromatic L-amino acid decarboxylase deficiency (AADCD) has completed the 28-day post-dose follow-up.
The operation of this patient's administration went smoothly. Post-dose imaging signals showed that the activity of AADC enzyme at the administration site increased obviously, and the level of dopamine metabolism substrate in the brain also showed a recovery trend. The child's mobility and grasping ability increased significantly compared with that before administration.
VGN-R09b has been administered to 6 patients in the earlier exploratory study, showing good surgical medication safety and postoperative recovery. Improvements in brain imaging and AADC enzyme activity were seen after 4 weeks of medication, with gradual improvement in clinical symptoms and recovery of motor function and intelligence. Some children are now able to complete the important milestones of lifting their heads and sitting alone.
The enrollment in the registered study of VGN-R09b against AADCD is ongoing, and the main enrollment criteria are as follows:
1. Subjects ≥18 months to <8 years of age at the time of signing the informed consent and whose head circumference is judged by the investigator to be suitable for surgery;
2. A documented history of a confirmed diagnosis of AADC deficiency with corresponding clinical symptoms and the presence of a disease-causing mutation in which the AADC biallelic gene is confirmed by genetic testing to be IVS6+4A>T homozygous or compound heterozygous;
3. Plasma AADC activity recorded in the medical history or detected at screening ≤12pmol/min/ml;
4. Severe patients (head control score of 0) with motor development <3 months of age at baseline who, in the judgment of the investigator, have poor efficacy with the existing standard treatment regimen;
5. The subject’s parent/guardian understands the information about the trial as well as the purpose and risks of the trial as described in the informed consent form, consents to the subject's enrollment in the trial, and authorizes the use of the subject’s health information by providing a signed and dated informed consent form.
Contact information: Mr. Zhang 15601822665
Address: Shanghai Children's Medical Center, No.1678 Dongfang Road, Pudong New Area, Shanghai.
About AADC Deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is caused by a pathogenic mutation in the DDC gene encoding AADC, which is responsible for the decarboxylase of L-DOPA (levodopa) and 5-HTP (5-hydroxytryptophan) to form the neurotransmitters dopamine and 5-hydroxytryptamine, respectively. AADC deficiency impedes the synthesis of critical neurotransmitters that control the sympathetic nervous system, emotion, cognition and motor coordination, presenting clinical symptoms such as motor dysfunction, mental retardation and diminished alertness and sleep disturbances, with a risk of premature death in the first decade of life. There are no formal epidemiological studies of the disease in China except a newborn screening program for AADC deficiency in Taiwan, which showed a birth incidence of AADC deficiency of approximately 1/32,000.
About VGN-R09b
VGN-R09b is a gene therapy product independently developed and manufactured by Vitalgen BioPharma, which uses recombinant AAV as a gene therapy vector to recover dopamine production based on the delivery of functional AADC, thus playing the corresponding potential therapeutic effects. By local striatal injection, the drug can be applied directly to the site of disease, reducing the dose administered systemically and correspondingly leading to a decrease in adverse effects such as immune reactions. Theoretically, gene therapy requires only one injection to have long-term therapeutic effects.