Patient-Reported Outcome Measures (PROMs) are an essential component of both clinical trials and routine care for pharmaceutical approval and as an instrument for quality assurance and development. Health-related Quality of Life (HrQoL) is a critical outcome representing the subjective perception of health. As a multidimensional construct, it includes physical, emotional, and social well-being, role functioning, and potentially other domains relevant to the disease being investigated from the patient's and parent's perspective. PROMs measuring HrQoL differ by level: generic, chronic-generic, condition-specific, and treatment-specific.
Generic questionnaires represent the full range of health conditions, address groups independent of their respective health state, and effectively compare two cohorts. Chronic generic measures have also been developed, focusing on the experience of having a chronic health condition - independent of which chronic disease. In contrast, disease-specific instruments reflect the specific challenges and needs in the context of a specific disease or treatment.
To implement patient-centered healthcare, it is necessary to have a set of appropriate HrQoL measurements on different levels to include the patients' perspectives in care.
Thus, the primary aim of this study is to identify appropriate PROM for children, adolescents, and adults with inherited metabolic diseases as self-reports and proxy-reports. This set of PROMs will include PROMs on different levels focusing on HrQoL, the impact of inherited metabolic diseases, and their treatment.
This study is a starting point for integrating PROMs in routine clinical care and includes a systematic literature review on HrQoL in patients with inherited metabolic diseases. The review will be conducted within six months, resulting in a set of PROMs.
Kooperationspartner
Prof. Dr. Klaus Mohnike (Universitätsklinikum Magdeburg, Medizinische Fakultät, Pädiatrische Endokrinologie und Diabetologie)
