HEALTH-RELATED QUALITY OF LIFE AND FUNCTIONAL IMPACTS FOR CAREGIVERS AND CHILDREN LIVING WITH FRRS1L GENETIC DISORDER: A QUALITATIVE STUDY OF LIVED EXPERIENCES
Author(s)
Sarah Bentley, BSc, MSc1, Menita Asriah, BSc, MSc1, Hannah Rees, BSc, MSc1, Jenna Williams, BSc, MSc1, Christine Green, BSc, MSc2.
1Adelphi Values Patient-Centered Outcomes, Bollington, United Kingdom, 2Finding Hope for FRRS1L, Fort Collins, CO, USA.
1Adelphi Values Patient-Centered Outcomes, Bollington, United Kingdom, 2Finding Hope for FRRS1L, Fort Collins, CO, USA.
OBJECTIVES: Ferric Chelate Reductase 1 Like (FRRS1L) genetic disorder is a rare genetic neurodevelopmental disease characterized by global developmental delay, hyperkinetic movements, refractory seizures, and developmental regression. At around two years of age children experience a rapid loss of abilities leading to severe lifelong disability. This qualitative study aimed to explore the patient and caregiver experience of FRRS1L genetic disorder.
METHODS: A targeted literature search was conducted in OVID SP®. Qualitative, semi-structured, concept elicitation interviews were conducted with 11 caregivers of FRRS1L patients aged between 14 months to 24 years, and three specialist healthcare professionals (HCPs) in the United States. The literature review and interviews explored signs/symptoms experienced and functional/health-related quality of life (HRQoL) impacts for patients and caregivers. Verbatim transcripts were subject to thematic analysis methods.
RESULTS: Signs/symptoms and HRQoL impacts across multiple domains were identified through the literature review and interviews. FRRS1L genetic disorder was described as a progression from early signs/symptoms to severe developmental regression, involving global loss of function and worsening/emergence of new symptoms, including seizures/epilepsy, impaired speech, constipation, choreoathetosis, diffuse hypotonia, and difficulty swallowing (reported by >80% of participants). Extensive patient impacts were identified, including limited interaction with others, difficulties eating/drinking, washing/bathing, going to the toilet, joining activities and playing, communicating, and poor sleep quality (all reported by >60% of participants). Management of FRRS1L entailed full-time, skilled care, though access to support was reported as challenging, primarily due to the diagnosis being rare. All caregivers also described impacts to their own HRQoL, most commonly emotional/psychological wellbeing and activities of daily living, as well as significant financial burden.
CONCLUSIONS: This is the first qualitative study to characterize the lived experience of FRRS1L genetic disorder. Findings demonstrate the severity of functional impairments and HRQoL impacts on both patients and caregivers and highlight significant unmet treatment and support needs in this condition.
METHODS: A targeted literature search was conducted in OVID SP®. Qualitative, semi-structured, concept elicitation interviews were conducted with 11 caregivers of FRRS1L patients aged between 14 months to 24 years, and three specialist healthcare professionals (HCPs) in the United States. The literature review and interviews explored signs/symptoms experienced and functional/health-related quality of life (HRQoL) impacts for patients and caregivers. Verbatim transcripts were subject to thematic analysis methods.
RESULTS: Signs/symptoms and HRQoL impacts across multiple domains were identified through the literature review and interviews. FRRS1L genetic disorder was described as a progression from early signs/symptoms to severe developmental regression, involving global loss of function and worsening/emergence of new symptoms, including seizures/epilepsy, impaired speech, constipation, choreoathetosis, diffuse hypotonia, and difficulty swallowing (reported by >80% of participants). Extensive patient impacts were identified, including limited interaction with others, difficulties eating/drinking, washing/bathing, going to the toilet, joining activities and playing, communicating, and poor sleep quality (all reported by >60% of participants). Management of FRRS1L entailed full-time, skilled care, though access to support was reported as challenging, primarily due to the diagnosis being rare. All caregivers also described impacts to their own HRQoL, most commonly emotional/psychological wellbeing and activities of daily living, as well as significant financial burden.
CONCLUSIONS: This is the first qualitative study to characterize the lived experience of FRRS1L genetic disorder. Findings demonstrate the severity of functional impairments and HRQoL impacts on both patients and caregivers and highlight significant unmet treatment and support needs in this condition.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR138
Topic
Health Service Delivery & Process of Care, Patient-Centered Research, Study Approaches
Topic Subcategory
Patient Engagement, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Genetic, Regenerative & Curative Therapies, No Additional Disease & Conditions/Specialized Treatment Areas, Pediatrics, Rare & Orphan Diseases