Historical Success from Professor Ahmet Oğuzhan Özen

Professor Ahmet Oğuzhan Özen from Marmara University’s Faculty of Medicine discovered a definitive cure for CHAPLE Syndrome, a deadly disease of childhood.

Professor Ahmet Oğuzhan Özen and his team from Marmara University’s Faculty of Medicine made history by discovering a definitive cure for the deadly childhood disease, which they diagnosed for the first time in the world in 2017. “Nature Immunology”, one of the most prestigious journals of the medical world, gave wide coverage to this success of the Turkish doctor in its January 2021 issue. Researchers of Marmara University lead the world in the development of diagnosis and treatment methods for this disease called “CHAPLE SYNDROME” and some clinical trials can only be carried out in this center in the world. The success of Ahmet Oğuzhan Özen revealed that genomic medicine plays an important role in the treatment of diseases.

This disease, which caused child deaths, could not even be diagnosed throughout history. Prof. Özen diagnosed and named the disease for the first time in the world in 2017.

A genetic disorder of the immunity system and inherited disease, CHAPLE syndrome can manifest itself in early childhood with intestinal complaints such as stomachache, diarrhea, vomiting and loss of appetite and fatal complications such as frequent infections and vascular occlusions.

Dr. Özen said : 

At first, it appears with low albumin and intestinal complaints. Patients frequently apply to the hospital for albumin treatment. But later,  structural disorders develop in the vessels and the blood tends to clot too much. Severe vascular occlusion can occur even in childhood. Unfortunately, many patients die early due to these complications. We have been working hard for five years to find the cause of this disease.

As a result of our intensive laboratory work, we have revealed which molecules are working incorrectly and our hopes that we will be able to cure the deadly disease have started to bloom. A drug called "Eculizumab", which has been used successfully in some blood and kidney diseases in recent years, we first tested on patient cells and found it to be 100% effective. So we decided to try the effects of this drug on a larger group of patients.

Immunodeficiency resulting from genetic errors in the immune system affects tens of thousands of patients in our country. Many children die before being diagnosed because it is not well known. However, these patients can become healthy adults and fully functional and productive individuals when treated with modern methods. The discovery story of CHAPLE disease and its unique treatment success are the best examples of this.

Like many immunodeficiencies, hereditary CHAPLE disease is more common in our geography due to consanguineous marriages. However, we know that there are CHAPLE patients in dozens of different countries. We see that there are more carriers in some regions in our country. We can encounter this disease even in children of unrelated parents. " This indicates that there are carriers of certain frequencies in society.”

With the discovery of CHAPLE disease and its treatment, the cause of intestinal lymphangiectasia was also understood. As a result of the study findings, CHAPLE disease took its place in the literature as the newest member of complement system diseases. And with this study, it was discovered how important the complement system is in intestinal physiology. Thanks to rare disease research, it will be possible to understand more common diseases and to develop innovative treatments.