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A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)
Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers. Qualitative interviews were conducted...
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Published in: | Orphanet journal of rare diseases 2024-05, Vol.19 (1), p.203-203, Article 203 |
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description | Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers.
Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications.
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspe |
doi_str_mv | 10.1186/s13023-024-03215-9 |
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Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications.
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-024-03215-9</identifier><identifier>PMID: 38760658</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Adolescent ; Adult ; Care and treatment ; Caregivers - psychology ; Child ; Class I Phosphatidylinositol 3-Kinases - genetics ; Cost of Illness ; Development and progression ; Diagnosis ; Disease susceptibility ; Female ; Genetic Diseases, X-Linked - psychology ; Health aspects ; Health care industry ; Health Personnel - psychology ; Humans ; Immunological deficiency syndromes ; Interpersonal relations ; Male ; Medical research ; Medicine, Experimental ; Middle Aged ; Primary Immunodeficiency Diseases ; Qualitative Research ; Quality of Life ; Young Adult</subject><ispartof>Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.203-203, Article 203</ispartof><rights>2024. The Author(s).</rights><rights>COPYRIGHT 2024 BioMed Central Ltd.</rights><rights>The Author(s) 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c521t-bb188e292cdf99d0542c91b2f5b17025db83367f6195be3df2519e7891b0f73a3</cites><orcidid>0000-0003-4874-0334</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102230/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11102230/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,37013,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38760658$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hitchcock, Ian</creatorcontrib><creatorcontrib>Skrobanski, Hanna</creatorcontrib><creatorcontrib>Matter, Elina</creatorcontrib><creatorcontrib>Munro, Ewen</creatorcontrib><creatorcontrib>Whalen, John</creatorcontrib><creatorcontrib>Nolthenius, Joanne Tutein</creatorcontrib><creatorcontrib>Crocker-Buque, Alex</creatorcontrib><creatorcontrib>Harrington, Amanda</creatorcontrib><creatorcontrib>Vandenberghe, Delphine</creatorcontrib><creatorcontrib>Acaster, Sarah</creatorcontrib><creatorcontrib>Williams, Kate</creatorcontrib><title>A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)</title><title>Orphanet journal of rare diseases</title><addtitle>Orphanet J Rare Dis</addtitle><description>Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers.
Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications.
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Care and treatment</subject><subject>Caregivers - psychology</subject><subject>Child</subject><subject>Class I Phosphatidylinositol 3-Kinases - genetics</subject><subject>Cost of Illness</subject><subject>Development and progression</subject><subject>Diagnosis</subject><subject>Disease susceptibility</subject><subject>Female</subject><subject>Genetic Diseases, X-Linked - psychology</subject><subject>Health aspects</subject><subject>Health care industry</subject><subject>Health Personnel - psychology</subject><subject>Humans</subject><subject>Immunological deficiency syndromes</subject><subject>Interpersonal relations</subject><subject>Male</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Middle Aged</subject><subject>Primary Immunodeficiency Diseases</subject><subject>Qualitative Research</subject><subject>Quality of Life</subject><subject>Young Adult</subject><issn>1750-1172</issn><issn>1750-1172</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNptkl9rFDEUxQdRbK1-AR8k4Ev7MDV_JpPJkyzV1oWCYvU5ZJKb3dTZyW6SKd1vb7ZbSxckhFxufueQG05VvSf4nJCu_ZQIw5TVmDY1ZpTwWr6ojonguCZE0JfP6qPqTUq3GDec4e51dcQ60eKWd8fVZoY2kx581tnfAUp5sluUA4L79RAioLwE1E_RwoiCQ9Yn0AmQH5E2RaAzWLRehlS2H0Py2VtArP7jxx1mYcgape1oY1gBOp39-HJz9rZ65fSQ4N3jeVL9vvz66-Jbff39an4xu64NpyTXfU-6DqikxjopLeYNNZL01PGeCEy57TvGWuFaInkPzDrKiQTRFQY7wTQ7qeZ7Xxv0rVpHv9Jxq4L26qER4kLpmL0ZQPG-MQ5kKwTYhjkn-4YYbIgFKXjb7Lw-773WU78Ca2DMUQ8Hpoc3o1-qRbhThBBMKcPF4fTRIYbNBCmrlU8GhkGPEKakGOZt21LetQX9uEcXurzNjy4US7PD1UzIhpZBBS3U-X-osiysvAkjOF_6B4KzA0FhMtznhZ5SUvObn4cs3bMmhpQiuKdRCVa77Kl99lTJnnrInpJF9OH5Jz1J_oWN_QVcANN4</recordid><startdate>20240518</startdate><enddate>20240518</enddate><creator>Hitchcock, Ian</creator><creator>Skrobanski, Hanna</creator><creator>Matter, Elina</creator><creator>Munro, Ewen</creator><creator>Whalen, John</creator><creator>Nolthenius, Joanne Tutein</creator><creator>Crocker-Buque, Alex</creator><creator>Harrington, Amanda</creator><creator>Vandenberghe, Delphine</creator><creator>Acaster, Sarah</creator><creator>Williams, Kate</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>BMC</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0003-4874-0334</orcidid></search><sort><creationdate>20240518</creationdate><title>A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)</title><author>Hitchcock, Ian ; Skrobanski, Hanna ; Matter, Elina ; Munro, Ewen ; Whalen, John ; Nolthenius, Joanne Tutein ; Crocker-Buque, Alex ; Harrington, Amanda ; Vandenberghe, Delphine ; Acaster, Sarah ; Williams, Kate</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c521t-bb188e292cdf99d0542c91b2f5b17025db83367f6195be3df2519e7891b0f73a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Care and treatment</topic><topic>Caregivers - psychology</topic><topic>Child</topic><topic>Class I Phosphatidylinositol 3-Kinases - genetics</topic><topic>Cost of Illness</topic><topic>Development and progression</topic><topic>Diagnosis</topic><topic>Disease susceptibility</topic><topic>Female</topic><topic>Genetic Diseases, X-Linked - psychology</topic><topic>Health aspects</topic><topic>Health care industry</topic><topic>Health Personnel - psychology</topic><topic>Humans</topic><topic>Immunological deficiency syndromes</topic><topic>Interpersonal relations</topic><topic>Male</topic><topic>Medical research</topic><topic>Medicine, Experimental</topic><topic>Middle Aged</topic><topic>Primary Immunodeficiency Diseases</topic><topic>Qualitative Research</topic><topic>Quality of Life</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hitchcock, Ian</creatorcontrib><creatorcontrib>Skrobanski, Hanna</creatorcontrib><creatorcontrib>Matter, Elina</creatorcontrib><creatorcontrib>Munro, Ewen</creatorcontrib><creatorcontrib>Whalen, John</creatorcontrib><creatorcontrib>Nolthenius, Joanne Tutein</creatorcontrib><creatorcontrib>Crocker-Buque, Alex</creatorcontrib><creatorcontrib>Harrington, Amanda</creatorcontrib><creatorcontrib>Vandenberghe, Delphine</creatorcontrib><creatorcontrib>Acaster, Sarah</creatorcontrib><creatorcontrib>Williams, Kate</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Science (Gale in Context)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Orphanet journal of rare diseases</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hitchcock, Ian</au><au>Skrobanski, Hanna</au><au>Matter, Elina</au><au>Munro, Ewen</au><au>Whalen, John</au><au>Nolthenius, Joanne Tutein</au><au>Crocker-Buque, Alex</au><au>Harrington, Amanda</au><au>Vandenberghe, Delphine</au><au>Acaster, Sarah</au><au>Williams, Kate</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)</atitle><jtitle>Orphanet journal of rare diseases</jtitle><addtitle>Orphanet J Rare Dis</addtitle><date>2024-05-18</date><risdate>2024</risdate><volume>19</volume><issue>1</issue><spage>203</spage><epage>203</epage><pages>203-203</pages><artnum>203</artnum><issn>1750-1172</issn><eissn>1750-1172</eissn><abstract>Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers.
Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications.
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>38760658</pmid><doi>10.1186/s13023-024-03215-9</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-4874-0334</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adolescent Adult Care and treatment Caregivers - psychology Child Class I Phosphatidylinositol 3-Kinases - genetics Cost of Illness Development and progression Diagnosis Disease susceptibility Female Genetic Diseases, X-Linked - psychology Health aspects Health care industry Health Personnel - psychology Humans Immunological deficiency syndromes Interpersonal relations Male Medical research Medicine, Experimental Middle Aged Primary Immunodeficiency Diseases Qualitative Research Quality of Life Young Adult |
title | A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS) |
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