In Regensburg, a gene therapy for the congenital blood disorder Beta has shown-thalassemia first achievements: A 20-year-old patient had been treated using the Genschere Crispr/Cas9 and manner for nine months, normal blood values, shared with the University hospital Regensburg. It was one of the first Attempts with the Genschere on people.
Beta-thalassemia is an inherited disorder in which the body to small amounts of the blood pigment forms hemoglobin. In the result of too little oxygen is transported across the blood-corpuscles in the cells. The patients suffer from a lack of oxygen. Depending on the severity of you develop growth disorders, bone diseases, liver and spleen enlargements, or depression.
So far, stem cell transplantation is the only way to be healed. For this purpose, a suitable donor is required. No transplant would be possible, would need to be Concerned, regular blood transfusions, – stated in the message of the University hospital Regensburg. This burden, however vital organs such as the heart and liver, and could lead to serious complications and death.
Patient received 16 blood transfusions in the year
The 20-Year-old had to rely on regular blood transfusions. On average, they received 16 treatments in a year. Nine months ago, the blood stem cells of the patient have been changed, then using Crispr/Cas9 to genetically. With the Genschere it is for a couple of years, the genetic material is particularly quick, inexpensive and change with precision. How this could be in medical use, is being trialled.
In the current case, the Doctors of the woman withdrawals first, blood-forming stem cells from the bone marrow. The genetic defect in them made up for, by using Crispr/Cas9, an alternative hemoglobin Gene is activated. Through these new genetic properties of the cells were then so-called fetal hemoglobin for oxygen transport.
Before the modified cells were able to be in the body of the woman brought, had to be the blood-forming stem cells in their bone marrow destroyed, the carried the genetic defect. As in the case of a stem cell transplant this was done by a chemotherapy.
For the time being, normal blood values, and transfusion unnecessary
After the patient received the genetically modified blood stem cells. The settled in caves in the Marrow of the bone, and formed a functioning blood cells. These included fetal hemoglobin took over the transport of oxygen in the body. Since blood transfusions are unnecessary, the patient has normal blood.
According to the clinic six study centers want to treat the world, a total of 45 Beta-thalassemia patients with Crispr/Cas9. You are about to be two years and followed for care.
“For patients, which can be offered no Alternative, would mean this form of therapy is the healing of a terrible disease,” said Selim Corbacioglu, head of the Department of pediatric Hematology, Oncology and stem cell transplantation at the University hospital Regensburg.
Criticism of pre-publication of the provisional results
Other researchers are more cautious. “On the positive side is that it is shown that the treatment with the Crispr/Cas9 works in principle,” said Holger Cario from the children’s-Hematology and Oncology at the University hospital in Ulm. The success, however, is highly dependent on how much fetal hemoglobin is formed, the cells after the procedure, and whether this was sufficient to supply the body with oxygen.
Genetic engineering expert, Boris Fehse University medical center Hamburg-Eppendorf said that he was pleased about the preliminary results. As President of the German society for gene therapy, he see it as very critical, to publish a study of individual patient data.
“You have to have a certain number of patients and a sufficiently long period of time, in order to prove that a therapy works,” he says. To simply proclaim the first success after a relatively short observation time, should not make school. “It is the first patient, in which Crispr/Cas9 has been used to treat thalassemia. If she is healed, we don’t know yet.”