Interviews on Daily Life of Adults With Untreated Fabry Disease in Sweden
Asks adults with Fabry disease not yet on treatment about their daily lives.
Plain-language title generated from the registry record
Registry title: Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Key facts
- Where
- Gothenburg, SwedenSee the site
Where in Sweden
- Sahlgrenska University HospitalGothenburg, SwedenNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Vastra Gotaland Region
- Trial code
- NCT07560956
- Record updated
- 27 August 2026
- Original description
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific treatment, for example because treatment criteria have not yet been met. There is limited knowledge about how patients experience this period without treatment.Read full original descriptionShow less
Quality of Life in Patients With Untreated Fabry Disease: A National Descriptive Study
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific treatment, for example because treatment criteria have not yet been met. There is limited knowledge about how patients experience this period without treatment.
The purpose of this study is to improve understanding of how adults with Fabry disease who are not yet receiving disease-specific treatment experience their quality of life, their daily lives, and their contacts with health care services.
This is a national interview study in which participants will take part in one individual digital interview lasting approximately 45-60 minutes. During the interview, participants will be invited to describe their experiences in their own words, including symptoms, how the disease affects everyday life, psychological and emotional well-being, and experiences of follow-up and support from health care providers. Participants will also complete a short questionnaire with basic background information, such as age, education, and living situation.
By collecting and analyzing patients' own narratives, the study aims to identify needs, challenges, and support resources during the period without treatment. The results are expected to contribute to increased knowledge and to the development of more person-centered care for individuals living with Fabry disease.
Inclusion: Age 18 years or older; Confirmed diagnosis of Fabry disease; Followed at a National Highly Specialized Care (NHV) center for Fabry disease in Sweden (Sahlgrenska University Hospital or Karolinska University Hospital); Not currently receiving disease-specific treatment for Fabry disease (such as enzyme replacement therapy or chaperone therapy); Treatment may be considered in the future; Ability to understand and speak Swedish; Ability and willingness to provide written informed consent.
Exclusion: Current or planned disease-specific treatment for Fabry disease; Disease-specific treatment deemed permanently not indicated due to other medical conditions; Actively declined an offered disease-specific treatment; Inability to participate in a qualitative interview.