Fabry DiseaseQoLUFNCT07560956
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
An observational study of Fabry Disease, run by Vastra Gotaland Region at 1 site in Sweden.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Qualitative Interview
- How many people
- 35 participants
- Where
- 1 siteSweden
- Study dates
- 21 Aug 2026to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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.
Read more
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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- Qualitative Interview
- Keywords
- Fabry disease, Quality of life, Patient experiences, Qualitative interview study, Rare diseases, Patient-reported outcomes
- Medical subject headings
- Fabry Disease, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Qualitative InterviewOther
Non-interventional
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Qualitative Interview |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Single assessment during one qualitative interview (approximately 45-60 minutes)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 May 2026
- Study start21 Aug 2026
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Vastra Gotaland RegionThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 35 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Vastra Gotaland Region
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07560956
- Sponsor's protocol ID
- QoLUF 284843
- Acronym
- QoLUF
- Status last verified
- Aug 2026
- First submitted
- 24 Apr 2026
- Last updated
- 27 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The study is qualitative, based on audio-recorded interviews and narrative data.
Publications
Morales M, Cruz J, Brignani E, Acuna L, Lazaro E, Soria C. Quality of life and unmet needs in patients with fabry disease: a qualitative study. Orphanet J Rare Dis. 2024 Oct 18;19(1):389. doi: 10.1186/s13023-024-03412-6.
PubMed 39425141
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quality of Life in Patients With Untreated Fabry Disease: A National Descriptive Study
- ClinicalTrials.gov ID
- NCT07560956
- Acronym / sponsor ID
- QoLUF / QoLUF 284843
- Conditions
- Fabry Disease
- Keywords
- Fabry disease, Quality of life, Patient experiences, Qualitative interview study, Rare diseases, Patient-reported outcomes
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 35 participants (estimated)
- Lead sponsor
- Vastra Gotaland RegionOther government
- Collaborators
- Karolinska University Hospital, Sahlgrenska University Hospital
- Study start
- 21 Aug 2026 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 1 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adults with Fabry Disease Not Receiving Disease-Specific Treatment | – | Other: Qualitative InterviewThis 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Qualitative InterviewNon-interventional | Other | Adults with Fabry Disease Not Receiving Disease-Specific Treatment |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2026.
- Background: PubMed 39425141Morales M, Cruz J, Brignani E, Acuna L, Lazaro E, Soria C. Quality of life and unmet needs in patients with fabry disease: a qualitative study. Orphanet J Rare Dis. 2024 Oct 18;19(1):389. doi: 10.1186/s13023-024-03412-6.
- Information on Fabry Disease - Swedish National Board of Health and WelfareLink provided by the sponsor.
- Individual participant dataSharing planned: No. The study is qualitative, based on audio-recorded interviews and narrative data.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Vastra Gotaland Region at 1 site in Sweden.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Sweden. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07560956, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Aug 2026.