Freed from constants transfusionswhich had to be submitted every 15 days due Mediterranean Anemia (Thalassemia), 39-year-old Vassilis, a teacher from the prefecture of Imathia, has been living for 5.5 years, who, as part of a clinical study, underwent gene therapy at the Papanikolaou hospital.

It’s about him first patient in Greece who was cured by being submitted to gene therapy in the Gene and Cell Therapy Unit and Hematopoietic Cell Transplantation Unit of the Hematology Clinic of Papanikolaou.

This treatment is expensive and currently not available in Greece.

There are currently two gene therapy treatments for Thalassemia and Sickle Cell Anemia available in America, with one recently approved in Europe.

Vassilis narrated his experience with gene therapy to APE-MPE, while the head of the Gene and Cell Therapy Unit and Hematopoietic Cell Transplantation Unit of Papanikolaou, hematologist Evangelia Giannaki, spoke about the gene therapies that are available today.

“After the treatment, my life changed, it was like I was reborn,” he says speaking to APE-MPE.

It should be noted that Vassilis and Mrs. Giannaki are speaking today about gene therapy in the context of the Panhellenic Information Meeting on “Endocrinology in Thalassemia and Sickle Cell Disease” organized by the Hellenic Thalassemia Association in Thessaloniki.

“I was born suffering from Mediterranean Anemia. I was diagnosed at 6 months old. As a child I had transfusions from 1.5 years old sometimes every 10 other times every 15 days, depending on how the hematocrit fluctuated. The truth is that I had a very difficult childhood because I am from the countryside, I had to go to Thessaloniki to receive blood transfusions. At the age of 33, this Pap test was done and I was recommended to participate because my blood elements matched exactly. I came into contact with Mrs. Giannaki through my doctor at AHEPA, where I was hospitalized for many years. Ms. Giannaki explained to me the details and the gene therapy process. The truth is that I thought about it carefully because it was a difficult process. I thought a transplant was needed. I would have to do chemotherapy, to get my body to the point of immunosuppression, the so-called zero point, so that it could receive the new transplant. The situations were a bit difficult in those days when I was receiving chemotherapy. In general, my body was in shock, which was unprecedented for me. The truth is that other people, such as cancer patients with leukemia etc., out of necessity go through it two or three times. After the chemo treatments were over it was time to receive the new graft. I took it and then my body slowly started to recover, I felt better and better. The whole process, of staying in an intensive care room, lasted 35 days. Then my body slowly recovered and my hematocrit started to rise gradually. If I remember correctly six months later he reached the level of a normal human. The transfusions were over about 5 to 10 days after I left the clinic. I think the last transfusion I did was at the beginning of November 2018. From then on I never did it again. After that it was like I was reborn. It was a lifelong dream come true. Since I was little, we were told in the Unit at ACHEPA that gene therapy would one day come. I dreamed that it would happen and it finally happened,” says Vassilis, who after the treatment, in 2021, had two children to whom he is devoted.

At the same time, he notes that he would like all patients with Mediterranean Treatment to benefit from gene therapy and for the State to support them to get rid of the condition. “I would like all patients to be able to benefit from this treatment and I feel like I have put a stone in the ground because this was all a study in the third and final phase. I feel that I have also helped make it a reality,” adds the 39-year-old teacher.

How is gene therapy performed?

Mrs. Giannaki, for her part, notes that gene therapy has given extremely successful results in the treatment of Mediterranean Anemia and Sickle Cell Anemia in two different ways, in terms of the genetic modification of the patients’ cells.

“The treatment is done in two different ways in terms of how the patients’ cells are genetically modified, but the process remains the same for the patient. Both ways are extremely successful. In one case, the normal gene is transferred into the patient’s diseased cells. The other approach is that we intervene at a point in the patient’s genome and there we modify that point so that the patient expresses fetal hemoglobin, which is normally silenced after we are born. We want to reactivate the fetal hemoglobin because people who have this mutation, with which the fetal hemoglobin remains and is not silenced in adulthood, it has been found that when they also have Thalassemia they need transfusions. Well, one way to treat Thalassemia is to increase fetal hemoglobin. These are the two ways we approach treating Mediterranean Anemia and Sickle Cell with gene therapy. In Greece, two patients received the first gene therapy product in the context of a clinical study and one has been without transfusions for 5.5 years, the other has been without transfusions for 5 years and today both are very well, says Ms. Giannaki .

The treatment process

The treatment process begins with leukapheresis, i.e. primordial hematopoietic cells are removed from the patient, which are genetically modified in the laboratory and then given to the patient who has previously undergone chemotherapy

“The rationale of chemotherapy is to destroy the endogenous thalassemic or sickle cell marrow and give the opportunity for the ‘corrected’ cells to settle in and then produce normal blood lineages. So this is the process for the patient and it is the same whether we do the genetic modification in one case where we insert the normal gene, or we do it in the other case where we increase the fetal hemoglobin. This treatment is given to people over 12 years of age. In theory it can be done at all ages as long as they meet certain eligibility criteria in the sense of being in good condition to be able to withstand chemotherapy. In other words, the age is not so much the issue as the overall condition of the patient’s organs, because these patients are also heavily burdened by chronic iron deposition, so they may have cardiac problems, liver problems, etc.” explains Mrs. Giannaki.

In which countries is the treatment available?

At the same time, he notes that today in America both methods of treatment are available, while in Europe the treatment that increases fetal hemoglobin has just received permission. for her disposition. The other huge issue is financial because these treatments cost over two million for a patient. Of course it is a once-for-life treatment but the cost is enormous when it has to be paid once and up front for all patients. This cost may not exceed the total cost of hospitalization and pharmacotherapy including transfusions of patients with Mediterranean Anemia and sickle cell patients who begin to need transfusions, drugs, hospitalizations from infancy until the age they will die. This cost, if we calculate it, is possibly much higher than the two million, but it is still a cost that the health system of each state will have to pay,” notes Ms. Giannaki.