Free recruitment | the clinical trial of the first thalassemia family genetic blocking kit is in progress
June 13, 2022 · Guangzhou, Haikou, Liuzhou

The pre-implantation thalassemia test kit independently developed by Basecare Medical is the first product in China that can be used for feasibility assessment with the help of artificial intelligence system. It can be used to test embryos before implantation to confirm whether they carry thalassemia gene. The product obtained the first national registration, verification and approval in 2020, and is a key special research and development product of the 14th five-year National Key Research and Development Plan. It can effectively avoid the transmission of genetic diseases from generation to generation, help couples with genetic diseases or carriers to have healthy children, and reduce the rate of birth defects.

This kit is used to qualitatively detect the genomic DNA of blastocyst trophoblast cells and their parents and/or related relatives in vitro cultured embryos of IVF babies, and determine whether the embryos inherit gene mutations from the parents through linkage analysis, so as to assist doctors to select appropriate embryos for implantation. The use of multiplex PCR amplification plan and haplotype linkage analysis to block monogenic genetic diseases can detect SNP sites linked to pathogenic variants, which has the advantages of high accuracy, economic efficiency, safety and reliability, and high success rate.

About Thalassemia

Thalassemia (thalassemia) is the most widely distributed autosomal recessive genetic disease affecting the most people in the world. It is also a birth defect disease that seriously affects children's health and population quality. At present, patients with severe and intermediate thalassemia have about 300 thousand people, and the carriers of thalassemia gene exceed 30 million. Thalassemia is one of the genetic diseases with the highest incidence and greatest influence in the provinces south of the Yangtze River, with Guangxi, Guangdong and Hainan as the top three regions with the highest incidence. According to the survey, the carrying rate in Guangxi is about 24.5%, that in Guangdong is about 16.8% and that in Hainan is about 15.4%.

When one spouse was a thalassemia gene carrier, the offspring had a 50% chance of being a carrier. When both spouses are carriers of the thalassemia gene, the offspring have a 50% chance of being carriers and a 25% chance of being thalassemia patients. Patients with severe thalassemia develop anemia, progressive exacerbation of hepatosplenomegaly, jaundice and other symptoms within a few days of birth, accompanied by stunted growth, and are difficult to live to adulthood. Patients with moderate to severe thalassemia need regular blood transfusion and iron removal treatment to maintain life, and the annual medical expenses can be as high as more than 100,000 yuan.

In China, thalassemia gene carries a high rate, and patients will face a great risk of having children with genetic diseases. Before this, to solve this problem is often faced with immature technology and high cost. With the development and application of NGS sequencing technology and PGT-M technology, it can play a very good role in the primary prevention of birth defects against genetic diseases such as thalassemia.

Free clinical trial recruitment is ongoing

The preimplantation thalassemia test kit led by The Third Affiliated Hospital of Guangzhou Medical University, The First Affiliated Hospital of Hainan Medical College and Liuzhou Maternal and Child Health Hospital, which are the regional benchmarks, has entered the recruitment stage of clinical trials. The clinical trial project has been approved by the ethics committee of the hospital and filed with the Jiangsu Drug Administration. The successful implementation of the project will further benefit the families of thalassemia patients in Guangdong, Guangxi, Hainan and surrounding areas, move the threshold of birth defects prevention forward with scientific and innovative technologies, help the families of genetic diseases patients to have healthy children, and help the high-quality development of the national prevention and control of birth defects, which is of great clinical significance.

The clinical trial is not only free of charge for patients, but also provides transportation and other subsidies to couples who meet the hospital's enrollment criteria for the "third generation of IVF". If you would like to learn more about this clinical trial and have a healthy baby by blocking thalassemia gene transmission through three generations of test tubes, please consult the Reproductive Medicine Center of the above hospital.