Hypophosphatasia (HPP) Patient & Caregiver Disease Burden, Quality of Life & Treatment Experience: A Mixed Methods Study Concept
Author(s)
Remon Helmy, RPh, MSc, PhD, MBA1, Philippe Laramee, PhD2, Daniel Staub, PhD1, Lothar Seefried, MD3, Raja Padidela, MD4.
1Alexion Pharma GmbH, Baar, Switzerland, 2Alexion Pharma Spain S.L., Barcelona, Spain, 3Musculoskeletal Center Wuerzburg, University of Wuerzburg, Wuerzburg, Germany, 4Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
1Alexion Pharma GmbH, Baar, Switzerland, 2Alexion Pharma Spain S.L., Barcelona, Spain, 3Musculoskeletal Center Wuerzburg, University of Wuerzburg, Wuerzburg, Germany, 4Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Presentation Documents
OBJECTIVES: Hypophosphatasia (HPP) is a genetic disorder characterized by low serum alkaline phosphatase. Symptomatic HPP manifests with a severity spectrum varying from life-threatening in neonates to chronic debilitating musculoskeletal symptoms in adults. The objective of this study is to measure the burden and quality of life (utility estimates) of caregivers caring for symptomatic Hypophosphatasia (HPP) patients across the age and severity spectrum.
METHODS: This is an observational survey study. Inclusion criteria are that participant 1) is aged 18 years or older; 2) is currently the main caregiver/co-caregiver of a child (5-12 years), adolescent (13 to 17 years), or adult (ages 18 years or older) with HPP; 3) can report the patient’s diagnosis with HPP, as made by a practicing physician; 4) can converse and read in the language of their country of residence; 5) consents to participate; 6) can comply with study requirements and 7) has access to the internet and to an electronic device (e.g., computer or mobile phone) to complete the survey on. Participants will be recruited from multiple countries considering local institutional review board requirements. A mix of caregivers of patients from different age, severity levels, asfotase alfa treatment status and country income levels (and correspondingly healthcare systems) will be targeted.
RESULTS: Quantitative analysis of survey data will present demographic data of caregivers and patients as well as information on current patient clinical manifestations. Caregiver surveys will provide data for health utility estimates as well as other aspects of their burden caring for HPP patients.
CONCLUSIONS: To the best of our knowledge, this is the first study measuring HPP caregiver quality of life. It is expected to contribute to better understanding of the wider disease impact beyond patients and to help decision making with regards to resource allocation for treatments that reduce the burden of HPP patients and, correspondingly, their caregivers.
METHODS: This is an observational survey study. Inclusion criteria are that participant 1) is aged 18 years or older; 2) is currently the main caregiver/co-caregiver of a child (5-12 years), adolescent (13 to 17 years), or adult (ages 18 years or older) with HPP; 3) can report the patient’s diagnosis with HPP, as made by a practicing physician; 4) can converse and read in the language of their country of residence; 5) consents to participate; 6) can comply with study requirements and 7) has access to the internet and to an electronic device (e.g., computer or mobile phone) to complete the survey on. Participants will be recruited from multiple countries considering local institutional review board requirements. A mix of caregivers of patients from different age, severity levels, asfotase alfa treatment status and country income levels (and correspondingly healthcare systems) will be targeted.
RESULTS: Quantitative analysis of survey data will present demographic data of caregivers and patients as well as information on current patient clinical manifestations. Caregiver surveys will provide data for health utility estimates as well as other aspects of their burden caring for HPP patients.
CONCLUSIONS: To the best of our knowledge, this is the first study measuring HPP caregiver quality of life. It is expected to contribute to better understanding of the wider disease impact beyond patients and to help decision making with regards to resource allocation for treatments that reduce the burden of HPP patients and, correspondingly, their caregivers.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR196
Topic
Patient-Centered Research
Topic Subcategory
Health State Utilities, Patient-reported Outcomes & Quality of Life Outcomes
Disease
SDC: Diabetes/Endocrine/Metabolic Disorders (including obesity), SDC: Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), SDC: Rare & Orphan Diseases