A research team in Lower Saxony is developing more precise diagnostic methods for collagenoses. “Zukunft.niedersachsen” is providing 2.7 million euros in funding.
Prof. Dr. Yannic Bartsch and Dr. Dr. Theresa Graalmann (from left) demonstrate how they analyze immune cells in skin or blood samples using flow cytometry. Copyright: Karin Kaiser/MHH
Joint pain, skin changes, extreme fatigue—and often no clear diagnosis for years: collagenoses can present in very different ways and become a major burden for those affected. In these rare inflammatory rheumatic diseases, the immune system attacks the body itself, particularly the connective tissue. Since virtually any organ can be affected, collagenoses can become life-threatening in the worst-case scenario.
More Precise Diagnoses for Better Treatments
Around 115,000 people in Germany live with such a disease. They are chronic, and there is currently no cure. While medications can alleviate symptoms, the search for the right treatment often takes a long time, which can be associated with significant suffering and high costs.
A team of researchers and physicians from Hannover Medical School, TWINCORE – Center for Experimental and Clinical Infection Research, and the Helmholtz Center for Infection Research (HZI) is working together to change that. Their project, “PREcision DIagnostics to CombaT Connective Tissue Diseases” (PREDICT-CTD), aims to develop a new diagnostic method. It is intended to ensure that patients can receive more targeted and personalized treatment in the future.
Treatment Based on the Cause of the Disease
To achieve this, the team is building on the knowledge that collagenoses—although they cause a wide variety of symptoms—can be divided into two groups based on their underlying immune reactions. “Either the inflammation is primarily triggered by specific immune cells, the B cells, or by specific immune system signaling molecules, type 1 interferons. Accordingly, the optimal therapy depends on the leading cause in each case,” says Dr. Dr. Theresa Graalmann, who leads the project with Prof. Dr. Yannic Bartsch.
To date, there is no routine clinical diagnostic method available to identify the primary inflammatory response in the tissue of affected patients in order to quickly initiate the appropriate therapy. Currently, the appropriate therapy must be tried out. The goal of the new project is to develop routine clinical diagnostics that can specifically analyze the individual type of inflammation and identify the appropriate therapy. This will help avoid unnecessary treatments.
Focus on immune system reactions
Approximately 200 children and 2,000 adults with collagenoses will be examined for the study. In addition to clinical factors, the team will analyze their blood samples, genetic factors, and tissue, particularly the skin. The focus is on the immune system’s reactions.
The project will begin on July 1, 2026, and is scheduled to run for five years. The state of Lower Saxony and the Volkswagen Foundation are supporting the project with 2.7 million euros as part of the “zukunft.niedersachsen” program. The program funds projects aimed at developing new diagnoses and therapies for rare diseases. Diseases are considered rare if they affect fewer than five out of 10,000 people. They are often particularly difficult to diagnose and treat.
One term – many clinical pictures
Collagenoses encompass several different diseases. Among the most common are: systemic sclerosis, systemic lupus erythematosus, Sjögren’s syndrome, and inflammatory myopathies. Mixed forms are also possible.
The diseases can manifest in very different ways: Systemic sclerosis leads to scarring of the connective tissue. This can affect both the skin and the internal organs. Systemic lupus erythematosus can affect not only the skin and joints but also the kidneys, heart, or nervous system. Sjögren’s syndrome leads to dry eyes and a dry mouth, but can also affect various organs. Inflammatory myositis is associated with chronic inflammation of the muscles and, consequently, muscle weakness.
The causes of collagenoses are diverse and include both genetic factors and environmental influences such as smoking, fine particulate matter, infections, and hormones. To date, collagenoses are incurable. There are various ways to alleviate the symptoms.
Text: Bettina Bandel