Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF) (QoLUF)

Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, leading to deficiency of the enzyme alpha-galactosidase A. As a result, globotriaosylceramide (Gb3) accumulates in cells and tissues, causing progressive involvement of multiple organ systems, including the heart, kidneys, and central nervous system. Clinical manifestations and disease severity vary considerably between individuals and between sexes.

Disease-specific treatment options, such as enzyme replacement therapy and chaperone therapy, are available for Fabry disease. However, a subgroup of patients does not yet receive such treatment, either because established treatment criteria are not fulfilled or for other medical reasons. Patient experiences during this untreated period are insufficiently described in the current literature.

This study is a national, qualitative interview study aiming to describe how adult patients with Fabry disease who are not receiving disease-specific treatment experience their quality of life, disease situation, and interactions with health care services. The study is conducted in collaboration between the two Swedish national high-specialty care centers (National Highly Specialized Care, NHV) for Fabry disease at Sahlgrenska University Hospital in Gothenburg and Karolinska University Hospital in Stockholm.

Participants are recruited through the respective NHV clinics. After providing written informed consent, each participant takes part in a single individual semi-structured interview. Interviews are conducted digitally and last approximately 45-60 minutes. The interview guide covers topics such as symptoms and impact on daily life, psychological and emotional experiences, perceptions of health care follow-up and communication, involvement in care decisions, expectations regarding potential future treatment, and the impact of Fabry disease within the family.

Interviews are audio-recorded, transcribed verbatim, and de-identified prior to analysis. No information is obtained from medical records. In addition to the interview, participants complete a short questionnaire providing basic demographic information.

Data are analyzed using qualitative content analysis at both manifest and latent levels, applying an inductive approach. Through systematic analysis of participants' narratives, categories and overarching themes are developed to capture shared experiences, variations, and patterns in how individuals experience living with Fabry disease without current disease-specific treatment.

The study is expected to generate in-depth knowledge of patients' experiences during the untreated phase of Fabry disease and to inform the development of more person-centered follow-up and support within highly specialized care for rare diseases.