Quality of Life in Untreated Fabry

NCT07560956 | Not Yet Recruiting

• 1 other identifier: QoLUF 284843
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Fabry Disease

Keywords

Fabry disease; Quality of life; Untreated Fabry disease; Patient experiences; Qualitative interview study; Rare diseases; Patient-reported outcomes

Outcome Measures

Primary Outcomes (1)

• 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.

  Single assessment during one qualitative interview (approximately 45-60 minutes)

Study Arms (1)

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

Interventions

Qualitative Interview OTHER

Non-interventional

Adults with Fabry Disease Not Receiving Disease-Specific Treatment

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Vastra Gotaland Region: lead
• Karolinska University Hospital: collaborator
• Sahlgrenska University Hospital: collaborator

Study Sites (1)

Sahlgrenska University Hospital

Gothenburg, 413 45, Sweden

Location

Related Publications (1)

• 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.

  PMID: 39425141 BACKGROUND

Related Links

• Information on Fabry Disease - Swedish National Board of Health and Welfare

MeSH Terms

Conditions

Fabry Disease; Rare Diseases

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Dimitrios Chantzichristos, MD PhD

CONTACT

+46 31 342 1000; dimitrios.chantzichristos@gu.se

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 24, 2026
• First Posted: May 1, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: May 1, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

SE (1)