SAT288 Development Of CAH-specific Patient Reported Outcome (PRO) Instrument To Assess Health-related Quality Of Life (HRQoL)

Abstract

Abstract Disclosure: M.E. Flokas: None. L. Yang: None. K. Middleton: None. R.W. Persky: None. S. Kollender: None. M. Parker: None. D.P. Merke: Grant Recipient; Self; Diurnal, received unrelated research funds through the National Institutes of Health Cooperative Research and Development Agreement., D.P.M. received unrelated research funds from Neurocrine Biosciences through the National Institutes of Health Cooperative Research and Development Agreement. Objectives: Measuring health-related quality of life (HRQoL) is a crucial and often required process of evaluating health care outcomes. The aim of our study is to develop a disease-specific patient reported outcome (PRO) instrument to evaluate the HRQoL of patients >16 years old with classic congenital adrenal hyperplasia (CAH). Methods: Following the FDA guidelines for developing PRO instruments, we developed a conceptual framework for the instrument. The process involved interviewing a representative sample of the CAH population and along with expert feedback and review of the literature. We are assessing the instruments’ validity and reliability with the assistance of patient participation. Internal consistency of the instrument is being evaluated using Cronbach’s alpha. We are also assessing the validity by comparing the scores of our instrument with scores from widely used instruments for HRQoL namely, Short Form Health Survey-36 (SF-36), AddiQol, Tuebingen CD-25 and Female Sexual Functioning Index. Furthermore, we collected data regarding the clinical outcomes, symptoms and patient characteristics to investigate the correlation between patient-reported and provider- observed outcomes. Results: Twelve patients with CAH, aged between 16 to 68 years old were interviewed and provided insight on the CAH - related health outcomes that were most relevant to them. A preliminary instrument was developed and subjected to validity testing in the form of cognitive interviewing. The edited instrument consisting of 73 questions covering 9 preliminary domains (General Health, Adrenal Insufficiency, Glucocorticoid Excess, Androgen Excess, Physical Functioning, Sexual Functioning and Fertility, Mental Health and Cognition, Social Functioning and CAH Management). Sixty-nine participants aged 16 to 75 years old participated in validating our preliminary instrument. Forty- six participants (67%) had salt-wasting CAH while 23 (33%) had simple virilizing CAH. Fifty-one percent of participants identified as male, 46% female, while 3% as other gender. Preliminary results show mostly acceptable (>0.7) Cronbach’s alpha, showing reliability in most domains. Further data analysis is underway. Conclusion: This is the first PRO instrument to capture the HRQoL outcomes in the CAH population. In addition to its anticipated use in the clinical setting, the instrument could be used to assess the efficacy of novel treatments in development. The final instrument is currently under development. Presentation: Saturday, June 17, 2023