A Co-designed Physical Activity Intervention in Fabry Disease

NCT06257901 | Completed

• 1 other identifier: 45091-NHS-Oct/2023- 47368-1
• Study Type: observational
• Target: 41
• Locations: 1 country
• Sites: 1

Brief Summary

Currently, treatments for Fabry disease are pharmacological and predominantly focus on the physical symptoms of the disease. In the general population and individuals with disabilities, increasing physical activity levels and reducing sedentary time can be an effective, non-pharmacological treatment to improve mental health and quality of life. Such interventions have not yet been developed or evaluated in people with Fabry disease. The aim of this study is to co-design a physical activity and sedentary behaviour intervention tailored to the needs of adults with Fabry disease. The study will seek to gain the expertise of adults with Fabry disease, specialist stakeholders (physicians, cardiologists and clinical nurse specialists) and lay specialist stakeholders (family and friends of adults with Fabry disease and members of staff and volunteers at the Society for Mucopolysaccharide Diseases). A range of views and experiences of physical activity and sedentary behaviour will be explored via focus groups (with individuals with Fabry disease and lay specialist stakeholders) and semi-structured interviews (with specialist stakeholders). The information gathered from the focus groups and interviews will then be utilised to inform participatory workshops (with individuals with Fabry disease) to test intervention concepts. Data from these activities will inform the design of a future intervention.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (4)

• Focus groups (adults with Fabry disease)

  Themes describing adults with Fabry disease's views and experiences of physical activity and sedentary behaviour- Emergence of themes describing participants' views and experiences from analysis of focus groups (using the Framework Method).

  9 months

• Focus groups (lay specialist stakeholders)

  Themes describing lay specialist stakeholders' views and experiences of physical activity and sedentary behaviour- Emergence of themes describing participants' views and experiences from analysis of focus groups (using the Framework Method).

  9 months

• Semi-structured interviews (specialist stakeholders)

  Themes describing specialist stakeholders' views and experiences of physical activity and sedentary behaviour- Emergence of themes describing participants' views and experiences from analysis of interviews (using the Framework Method).

  9 months

• Participatory workshops (adults with Fabry disease)

  Themes describing adults with Fabry disease's views and experiences of initial intervention concepts- Emergence of themes describing participants' views and experiences from analysis of participatory workshops (using the Framework Method).

  9 months

Study Arms (3)

Adults with Fabry disease

Focus groups and participatory workshops

Other: Interviews/Focus groups/Participatory workshops

Lay specialist stakeholders

Focus groups

Other: Interviews/Focus groups/Participatory workshops

Specialist stakeholders

Interviews

Other: Interviews/Focus groups/Participatory workshops

Interventions

Interviews/Focus groups/Participatory workshops OTHER

Qualitative study (no intervention delivered)

Adults with Fabry disease; Lay specialist stakeholders; Specialist stakeholders

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with Fabry disease, lay specialist stakeholders and specialist stakeholders who meet the eligibility criteria.

You may qualify if:

• Have been diagnosed with Fabry disease.
• Aged ≥ 18 years old.
• Able to independently ambulate with or without the use of a walking aid.
• Lives in the United Kingdom.
• Deemed eligible to participate following screening by a clinician (for participatory workshops).
• The circumstances in which an individual may be deemed ineligible to participate in the participatory workshops based on the clinician's assessment are as follows:
• Severe neuropathic pain.
• Stage 4 heart failure or other condition resulting in breathlessness to a level they cannot participate.
• Other clinical condition which dominates the clinical picture to the extent that it dominates the symptoms and biases the results.

You may not qualify if:

• Incapacity to provide written informed consent.
• Unable to communicate in English to a sufficient level to permit engagement in the study.
• Specialist stakeholders will be members of staff at NHS specialist centres for Fabry disease who are directly involved in the healthcare of adults with Fabry disease.
• Lay specialist stakeholders will be individuals who have been involved in supporting adults with Fabry disease, such as family, friends and members of staff at the Society for Mucopolysaccharide Diseases.

Sponsors & Collaborators

• Brunel University: lead
• Royal Free Hospital NHS Foundation Trust: collaborator

Study Sites (1)

Brunel University London

London, United Kingdom

Location

MeSH Terms

Conditions

Fabry Disease

Interventions

Interviews as Topic

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

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Senior Lecturer in Sport, Health and Exercise Sciences

Study Record Dates

• First Submitted: January 25, 2024
• First Posted: February 14, 2024
• Study Start: March 1, 2024
• Primary Completion: September 30, 2024
• Study Completion: September 30, 2024
• Last Updated: February 13, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)