Free recruitment | the clinical trial of the first thalassemia family genetic blocking kit is in progress
June 13, 2022 · Guangzhou, Haikou, Liuzhou
The clinical trial of 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 care hospital, which are regional benchmarks, has now entered the stage of patient recruitment.

PGT-M preimplantation thalassemia detectionkit was independently developed by Basecare Medical. The product was approvedby the first national registration and verification in 2020. It hasparticipated in the localization kit project in the national key R & D projectof the 14th five year plan "reproductive health and women's and children'shealth security", which can truly block the inheritance of thalassemiagenes to the next generation from the root, help the thalassemia families tohave healthy children and reduce the birth defect rate.

About thalassemia

Thalassemia is an autosomal recessive disease with the widest distribution in theworld and the largest number of people involved. It is also a birth defectdisease that seriously affects children's health and population quality. Atpresent, there are about 300000 patients with severe and intermediate type ofthalassemia in China, and more than 30million gene carriers of thalassemia.Thalassemia is one of the genetic diseases with the highest incidence rate andthe greatest impact in the provinces south of the Yangtze River in China.Guangxi, Guangdong and Hainan are the top three regions with the highestincidence rate. According to the survey, the carrying rate is about 24.5% inGuangxi, 16.8% in Guangdong and 15.4% in Hainan.

When one of the husband and wife is athalassemia gene carrier, the offspring have a 50% chance of being a carrier;When both husband and wife are carriers of the thalassemia gene, the offspringhave a 50% chance of being carriers and a 25% chance of being thalassemiapatients. Severe thalassemia patients have anemia, progressivehepatosplenomegaly, jaundice and other symptoms within a few days of birth,accompanied by dysplasia, and it is difficult for them to live to adulthood.Patients with moderate and severe thalassemia need regular blood transfusionand iron removal treatment to maintain their lives, and the annual medicalexpenses can be as high as more than 100000 yuan.

In China, the carrying rate of thalassemiagene is very high, and patients will face a great risk of bearing children withgenetic diseases. Before that, we often faced the problems of immaturetechnology and high cost to solve this problem. With the development andapplication of NGS sequencing technology and PGT-M technology, it can play agood role in the primary prevention of birth defects against genetic diseasessuch as thalassemia. At present, the preimplantation thalassemia test kitproducts have passed the registration and verification, and entered the clinicaltrial stage, which can help the majority of patients realize their dream ofhaving healthy children.

Free clinical trial recruitment in progress

The clinical trial of preimplantationthalassemia test kit led by the Third Affiliated Hospital of Guangzhou MedicalUniversity, the First Affiliated Hospital of Hainan Medical College and Liuzhoumaternal and child health care hospital, which are regional benchmarks, has nowentered the stage of patient recruitment. The clinical trial project has beenapproved by the hospital ethics committee and filed with Jiangsu drugadministration. The implementation of the project can further benefit the thalassemiafamilies in Guangdong, Guangdong, Hainan and surrounding areas, move forwardthe barrier of birth defect prevention with scientific innovation andtechnology, and help the high-quality development of national birth defectprevention and control, which is of great clinical significance.

This kit is used to qualitatively detectthe genomic DNA of blastotrophoblast cells of in vitro cultured embryos of testtube infants and their parents and / or related relatives, and determinewhether the embryos inherit gene mutations from their parents through linkageanalysis, so as to assist doctors in selecting appropriate embryos forimplantation. The product adopts multiple PCR amplification technology to blocksingle gene genetic diseases through haplotype linkage analysis, which candetect SNP sites linked to pathogenic variation, with high accuracy, greatlyshorten the detection cycle and reduce the detection cost.

Not Only the test items for patients inthis clinical trial are free, but also the couples who meet the hospitalenrollment criteria will be given transportation and other subsidies accordingto the situation when carrying out the "third generation test tubebaby". If you want to block thalassemia gene through the third generationtest tube and give birth to a healthy baby, for more information about thisclinical trial, please consult the reproductive medicine center of eachhospital.