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

May 4, 2026 updated by: Vastra Gotaland Region

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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

35

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Sweden
      • Gothenburg, Sweden, 413 45
        • Sahlgrenska University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

  • 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 Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Adults with Fabry Disease Not Receiving Disease-Specific Treatment
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Patient-reported experiences of quality of life while living with untreated Fabry disease
Time Frame: Single assessment during one qualitative interview (approximately 45-60 minutes)
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.
Single assessment during one qualitative interview (approximately 45-60 minutes)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Vastra Gotaland Region

Collaborators

Karolinska University Hospital
Sahlgrenska University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

May 1, 2026

Primary Completion (Estimated)

December 31, 2027

Study Completion (Estimated)

December 31, 2027

Study Registration Dates

First Submitted

April 24, 2026

First Submitted That Met QC Criteria

April 24, 2026

First Posted (Actual)

May 1, 2026

Study Record Updates

Last Update Posted (Actual)

May 8, 2026

Last Update Submitted That Met QC Criteria

May 4, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • QoLUF 284843

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

The study is qualitative, based on audio-recorded interviews and narrative data.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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