At Emma CPM, our goal is to develop effective treatments for rare disorders.
To achieve this, a clear understanding of the symptoms and characteristics of the patients is crucial. This enables researchers and doctors to identify disease patterns and to find better ways to diagnose and treat patients.

Phenotyping involves the comprehensive characterization of patients, from genetic test results to measurements like height, weight, and lab results. When new treatments are tested in clinical trials, having accurate data from patients helps determine whether these therapies truly make a difference for this patient. Without this information, measuring progress and improving outcomes becomes much harder.

Equally important is the availability of patient data and biological materials for scientific research. Therefore, we launched the Emma CPM registry and biobank. By collecting and publishing high-quality patient data, we are taking an essential step toward a future where more people with rare disorders can receive personalized therapy.