For the first time, the night was colored, and China's first clinical trial of congenital black-hearted gene therapy was launched

Hereditary retinal eye disease is the primary cause of blindness in children and working-age people, because the vast majority of them lack effective intervention means, has long been called "incurable" eye disease, although there have been approved gene therapy drugs in the world, but the millions of dollars of "sky-high drugs", so that most patients are prohibitive, how to solve this problem?

One patient is undergoing an eye exam. The pictures in this article are all courtesy of Shanghai First People's Hospital

On January 10, the surging news (www.thepaper.cn) reporter learned from the Ophthalmology Center of Shanghai First People's Hospital that the hospital, as the National Clinical Medical Center for Eye Diseases, recently submitted China's first application for the registration of clinical trials for new drugs for the treatment of "congenital black eye" gene therapy to the Drug Evaluation Center of the State Drug Administration.

Professor Sun Xiaodong, who is in charge of the project, said that congenital blackness is a kind of hereditary retinal disease, and there are actually more than 500,000 patients with hereditary retinopathic diseases in China, and the fastest of them may become blind at the age of 20 or 30, and the slow ones will become blind by the age of 50 or 60. "Such patients carry disease-causing mutant genes, causing damage to the function of their retinal nerve cells or even complete death." Because nerve cells cannot regenerate once they die, the patient's vision will gradually lose with the development of the disease, and conventional treatment methods are basically ineffective for this type of genetic disease. ”

In December 2017, an ophthalmic gene therapy drug called Luxturna was launched in the United States, which can treat children and adult patients with "congenital blackness", but its treatment cost is often nearly one million US dollars, which makes the vast majority of patients prohibitive. In addition, the pathogenic gene mutation spectrum of hereditary eye diseases in China is different from that of foreign countries, making the target drugs developed abroad not fully applicable to domestic patients.

In order to solve the above problems, the research team of the Ophthalmology Center of Shanghai First People's Hospital, relying on the Shanghai Engineering Research Center of Ophthalmology and the Shanghai Key Laboratory of Ophthalmology, jointly built a gene therapy technology platform for the characteristics of Hereditary Eye Diseases of Chinese people, and developed a gene therapy drug "LX001" suitable for the characteristics of Hereditary Eye Diseases of Chinese people.

The hospital revealed that before submitting China's first application for the registration of clinical trials for the new drug of "congenital black eye" gene therapy, the hospital had already carried out experimental treatment in June 2021, and the research team recruited 6 independent clinical research volunteers, of which the youngest patient, Xiao Yi, was only 11 years old, an "old patient" with a 10-year course of hereditary retinal diseases.

On September 16, 2021, Xiao Yi received a subretinal injection in his right eye. Because existing medical techniques make it difficult to inject normal genes directly into target cells with genetic mutations, the research team selected and optimized specific AAV adenoviruses.

On December 16, 2021, 3 months after receiving the injection, the results of the review showed that Xiao Yi's right eye was in good condition, and her vision increased from the original 0.05 to 0.1, and what was more gratifying was that Xiao Yi's dark vision was greatly improved, and she could walk independently in the corridors, parking lots and other slightly dark places. In addition to Xiao Yi, the other 5 people also had different degrees of significant improvement in their vision after experimental treatment.

Professor Sun Xiaodong said that the hospital submitted the first domestic "congenital black eye" gene therapy new drug registration clinical trial application, its significance is not only to let tens of thousands of congenital black eye patients get rid of blindness, it means that the hospital took the lead in successfully building a clinical research system for gene therapy in China, opened up the biomedical research and development - production - clinical application of the industrial closed loop, for the gene therapy of other diseases has a demonstration and promotion effect.