Quality of life in people with the rare condition XLH: an approach based on their perceptions

• Grant number: 23/06375-8
• Support Opportunities: Regular Research Grants
• Start date: November 01, 2023
• End date: October 31, 2025
• Field of knowledge: Interdisciplinary Subjects
• Principal Investigator: Andrea Perosa Saigh Jurdi
• Grantee: Andrea Perosa Saigh Jurdi
• Host Institution: Instituto de Saúde e Sociedade (ISS). Universidade Federal de São Paulo (UNIFESP). Campus Baixada Santista. Santos , SP, Brazil
• Associated researchers: Ana Sofia Pedrosa Gomes dos Santos ; Marcia Maria Pires Camargo Novelli
• Associated scholarship(s): 24/03010-1 - Literature Review on Domains of Quality of Life and Well-Being in People with XLH, BP.TT

Abstract

The study on rare conditions (diseases) is still little explored worldwide, impacting the delay indiagnosis that takes, on average, five to seven years. One of these conditions - with a prevalence of4-5:1,000,000 live births in Brazil, is X-Linked Hypophosphatemia (XLH), a genetic disease thatconsists of the elimination of phosphate through urine causing low levels of phosphate in the blood,whose consequences, despite the heterogeneity of manifestations, condition the lives of people withthis disease, affecting their quality of life (QoL). Based on the scarcity of evidence, this project aimsat the development and content validation of a QoL assessment instrument for adult people with XLH.The research will be conducted with a mixed methodology, combining an exploratory qualitativestudy, associated with a quantitative study with 4 stages. In the 1st stage, and for the identification ofdomains and possible indicators, besides the literature review, two (2) conversation circles will becarried out with 21 people with XLH in Brazil and Latin America (Colombia, Bolivia, Mexico, Peru,Venezuela, Chile, Argentina and Brazil), whose dynamics will address the constructs of QoL, wellbeing and other issues related to the XLH condition. After analyzing the conversations, a first versionof the instrument will be created. In the second stage, the items will be evaluated in four categories(relevance, clarity, simplicity and ambiguity) by an interdisciplinary expert committee (n=10), for thecontent validation of the instrument. The content validity analysis will end with the quantitativecalculation of the respective content validity indices (CVI): per item (CVI I), universal agreement(CVI AU) and mean agreement (CVI M), proportion of agreement and Cohen's Kappa, given theinsufficiency of the indices per se. In the 3rd stage, a pilot test will be carried out with people withXLH (n=5) to assess the understanding of the questions and answer options. It is hoped that with thisstudy we can make available a QoL assessment instrument for adult people with XLH consideringindicators based on the needs and interests of this subgroup in Portuguese and Spanish (4th stage) (AU)