An observational study in Fabry Disease, sponsored by Vastra Gotaland Region. Enrolling by invitation at 1 site in Sweden. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-08-27.
Sponsored by Vastra Gotaland Region · Observational
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.
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.
244 studies on the registry are indexed under Fabry Disease; 55 are open to participants now.
This study's planned enrollment of 35 is below the median of 100 across 122 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Vastra Gotaland Region is the lead sponsor of 275 studies on the registry; 109 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study population consists of adult patients diagnosed with Fabry disease who are not currently receiving disease-specific treatment. Participants are followed at national highly specialized care centers in Sweden and represent individuals living with Fabry disease during a period without active treatment.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
This group includes adult patients diagnosed with Fabry disease who are not currently receiving disease-specific treatment (such as enzyme replacement therapy or chaperone therapy). Participants are followed at national highly specialized care centers in Sweden and take part in a single qualitative interview to describe their experiences of living with Fabry disease without current treatment.
Other: Qualitative Interview
Non-interventional
Patient-reported experiences of quality of life while living with untreated Fabry disease
Quality of life is explored through participant narratives obtained in a single semi-structured qualitative interview. Participants describe how Fabry disease and the absence of disease-specific treatment affect their daily life, physical well-being, psychological and emotional experiences, social activities, and overall life situation.
Time frame: Single assessment during one qualitative interview (approximately 45-60 minutes)
Plan to share: No — The study is qualitative, based on audio-recorded interviews and narrative data.
Started Aug 2026 (actual). Primary completion is estimated for Dec 2027, 16 months after the start.
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