Research and clinic at eye level

During his training as an optician, Nils Schaerer learned that retinitis pigmentosa, a hereditary eye disease that often leads to blindness, cannot be treated. Later in his studies in optometry at the University of Applied Sciences, the disease was discussed in more detail and with different variants, but the conclusion remained the same: There is nothing that can be done. It was only after his employment at the IOB and his work as a study coordinator at the Eye Clinic of the University Hospital Basel that he learned the first genetic therapies already existed offering treatment options for one of the disease variants – and that research was working at full speed on further innovative approaches. This perspective and the daily collaboration with patients and physicians at the Eye Clinic are still fascinating and motivating for him today – more than five years after his decision to change his profession as an optometrist and work daily as a study coordinator at the interface between research and the clinic. Broad portfolio of projects IOB employees, study coordinators and ophthalmologists from the Eye Clinic meet regularly to implement promising research approaches in clinical practice and to benefit patients as quickly as possible. For Nicolas Feltgen, Chief Physician a.i. of the Eye Clinic since April 2024, these meetings are a valuable element of collaboration. “The IOB presents its research projects, for example in the field of socially relevant retinal diseases, and we report on issues from the clinical field. The most important current topics are myopia research and new options for preventing scarring after eye operations. These intensive discussions provide both sides the opportunity to gain new insights and make further progress. Above all, however, this creates a unique opportunity for patients to benefit from the latest and most innovative treatment options.”

Nicolas Feltgen in the lecture hall of the Eye Clinic in Basel.

Feltgen and his team of 24 physicians have formed various clinical groups, each with 4 to 12 participants, which they assign to the IOB’s main research areas. In addition to epidemiological projects or widespread diseases such as short-sightedness, the collaboration also focuses on retinal dystrophies, a malformation of healthy tissue that is caused by genetic defects, among other things. “Close collaboration between basic researchers and the medical team is particularly important in this very special, still little-researched area. This is where the IOB’s Ophthalmic Genetics research group is doing pioneering work,” explains Nicolas Feltgen. Meetings between the IOB and the Eye Clinic take place at various intervals and on various occasions. For example, the planning group meets every two weeks, the dystrophy working team every four weeks and there are at least four medical-scientific training events in the lecture hall of the Eye Clinic each year. In addition, there is a retreat lasting several days once a year. Genetic beginnings These regular meetings and the exchange of data between the clinicians at the Eye Clinic and the IOB’s ophthalmic genetics researchers have already helped advance the field and patient care. “It’s so important that clinicians and scientists work together because every new treatment needs both worlds,” says Lucas Janeschitz-Kriegl, one of a handful of clinician scientists at the IOB who splits his time between his roles as a clinical ophthalmologist at the Eye Clinic and as a Ph.D. research student in the group of Bence György. “We need to understand the molecular details of a new pharmaceutical approach and we need to know how well that will meet the patient condition in the clinic – the success of many treatments relies on close collaboration between these disciplines.”

Meeting between the IOB and the Eye Clinic.

There are over 80 different known genetic variations of retinitis pigmentosa and one of the most valuable benefits of these collabo­rations is the high probability of identifying exactly which variant a patient has. The IOB offers a variety of genetic analyses using the latest testing methods, including tools developed at the IOB, as well as complementary state-of-the-art methods through collaborations with external companies. As a final step in any diagnosis, all of these findings are confirmed through a clinically certified external lab. From this information, the research team additionally offers predictions of the likely molecular consequences of each genetic variant. “Our high success rate is made possible by these innovative methods combined with our close discussions with the clinicians,” explaineds Janeschitz-Kriegl. “For example, we can compare genetic findings with clinical symptoms until we are confident in the genetic diagnosis, which can lead to new discoveries as well as a higher level of accuracy and quality for our patients compared to what is available through normal labs.” One of the biggest benefits for the IOB is the amount of patient data, which is strictly coded, that the clinicians can share with the genetic research teams to help them develop stronger predictions and confirm hypotheses about the roles of specific genes and gene variants. The clinicians also have the most detailed insights into how the disease presents in patients and what treatments might be the most beneficial.

In most institutes, these exchanges rarely occur in real-time, if they occur at all. But at the IOB, these monthly meetings provide a forum for vibrant exchange of new treatment ideas, patient results, and patient treatment needs. “These face-to-face discussions are very fruitful and really facilitate the flow of questions and results between the researchers and physicians,” says Janeschitz-Kriegl. “It’s a win-win-win for clinicians, researchers, and patients.” Between two chairs At the heart of all these joint projects are clinical studies that are conducted in the Eye Clinic, as well as at other clinics across the globe, with the IOB acting as sponsor/initiator. The IOB is not granted access to personalized patient data for regulatory reasons. Therefore, the results of the studies must be collected by employees of the University Hospital Basel, to which the Eye Clinic belongs, and processed and coded before forwarding to the IOB. The team of four study coordinators and one study doctor, who perform dual functions, are the ones who make this happen. “We are employed by the IOB, which also pays our salaries. As we have our offices in the Eye Clinic and the patient contacts also take place here, we are also employees without a salary at the University Hospital Basel – with the same duties as all employees there,” explains Nils Schaerer. He is keen to describe this unique arrangement as follows: “It’s like football. We are employed by one club but have been loaned out to another club for certain tasks and with a different role. There is always a need for explanation so that the matter of the two different hats is properly understood.” Nils Schaerer and his four colleagues therefore are taking on tasks and contacts with patients as part of the studies that IOB employees are not permitted to do. When they leave their office to go to the clinic and see patients, they put on the white coat or metaphorically the Eye Clinic hat and they shed their IOB identity.

Nicolas Feltgen, on his way to see patients.

Alleviating patient suffering Patients suffering from diseases such as retinitis pigmentosa have come to the Basel Eye Clinic for regular check-ups every six months for several years now. During these routine appointments, their visual field is tested and images of the retina are taken. The results are then analyzed and discussed in the clinic. The team of study coordinators provides a link between the clinic and the research institute. “As clinic staff, we receive the patients and, together with a clinician, inform them about the studies. We also carry out eye tests, collect the patients’ genetic samples, and take over the study questionnaires from the doctors, which they have filled in by hand during the examinations of the patients,” explains Nils Schaerer. Back in the office, depending on the project they are working on, the study coordinators resume their role as IOB again, they prepare study applications for the ethics committee, de-identify and transfer data and images for storage in a database, optimize processes, and answer questions from group leaders and Ph.D. students or support recruitment for new studies.

In their dual role as part of the IOB and the Eye Clinic, the study coordinators play an integral role and they are actively engaged in joint meetings between the two departments. They bring their expertise to such meetings as soon as it is needed. “We are happy to leave the scientific and clinical discussions to the specialists from the IOB and the Eye Clinic. However, we are eager to join the discussion when it comes to study planning, regulatory aspects or details of the Human Research Act and Good Clinical Practice,” Nils Schaerer asserts.