A research center at Türkiye's Gazi University has achieved groundbreaking milestones in the treatment of genetic diseases. A group of researchers at the Phase 1 Clinical Research Center have become the first in the world to successfully apply gene therapy for phenylketonuria, which can lead to permanent brain damage, and the first in Türkiye to perform nonsurgical brain gene therapy for GM1 Gangliosidosis, a condition that poses life-threatening risks in children.

On Monday, in an interview with Anadolu Agency (AA), professor Fatih Ezgü, head of the center, explained the progress of the studies conducted at the center, which was established about a year ago.

The professor emphasized that the center focuses on innovative treatments and drug development for childhood genetic diseases that require new and permanent treatments in Türkiye. He mentioned that more than 20 clinical trials involving different treatments are being conducted at the center.

He further elaborated that, in line with international permissions, gene therapy practices that can only be carried out in a few qualified centers worldwide have been initiated.

Regarding phenylketonuria, Ezgü stated, "We are conducting three clinical trials for phenylketonuria. The latest one aims at the definitive, permanent treatment of the disease through gene therapy."

Unique center

Highlighting that phenylketonuria is a hereditary disease that requires a special diet, failing which can lead to intellectual disabilities and permanent brain damage in children, Ezgü continued, "Like all genetic diseases, gene therapy studies have been initiated worldwide to establish a permanent treatment for phenylketonuria."

"The laboratory studies and animal experiments of the drug, produced in a different country, were successfully completed. Then, the application of the treatment on humans was considered for the first time."

He added, "Due to our center meeting the criteria determined in the research conducted, we were selected to carry out the world's first application of gene therapy on phenylketonuria patients. We started this study as the only center in the world in the capacity of an international center, and two or three more centers may join in the future."

"It is important not only for our country but also for many patients worldwide. We have successfully applied gene therapy to two phenylketonuria patients so far, and the third patient will undergo it soon. We will observe the results together in the coming days."

The professor explained that the Phase 1 studies of gene therapy involve three groups of three patients each receiving different doses, and the results are evaluated by an international team of doctors, indicating that the next stage will be determined based on these results.

Gene therapy

Regarding GM1 Gangliosidosis, a type of enzyme deficiency disorder that causes serious damage to the brain and other organs in children, which can result in death, Ezgü reported that they have initiated a treatment method in the scope of clinical studies that is the third in the world and the first in Turkey.

"In this disease, a gene therapy developed by a foreign sponsor was applied, and three centers, including ours, were selected worldwide to implement it. We administer gene therapy for this disease directly into the brain, not intravenously. It involves applying the drug directly into the brain with a needle under a tomography, without surgery."

He added that this method, which is very new worldwide, can be applied by a limited number of teams, and the team at Gazi University Faculty of Medicine Hospital received training in the U.S. on this subject. "Our professors successfully applied gene therapy to two patients directly into the brain under tomography, without surgery, with short anesthesia. This application was done for the first time in our country. Our patients became the fifth and sixth patients in the world to receive this treatment."

Local medicine

Ezgü underlined that the two clinical trials could shed light on the treatment of different genetic diseases and said, "In the coming period, we plan to initiate the advanced processes of a drug developed in our own laboratory as well as drugs developed abroad."

He said that they will also initiate two separate gene therapy studies on urea cycle disorders and lysosomal diseases, adding, "In addition to these, we are striving to produce a domestic gene therapy drug for a different disease in our own laboratory. If success can be achieved, we will conduct clinical research of the drug we produce in the following years in our center."

Explaining that Phase-1 clinical trials are conducted with a very limited number of patients, and more people are included in the study in the later stages, Ezgü said that patients were accepted into the gene therapy study as a result of the evaluation of approximately 20 different criteria, including age status.

He said, "Our goal is to successfully conclude these studies and develop treatments in a way that all patients can use. I would like to emphasize that all our genetic patients can look to the future with hope. Of course, they need to be patient for a while."

Pointing out that clinical studies are carried out in cooperation with many departments such as pediatric neurosurgery, anesthesia, otolaryngology and radiology, Ezgü added that clinical research at the center is carried out with a professional team that can do everything they can to ensure that patients can receive better health care in the future.