SIGNIFICANCE: Presbyopia typically occurs around 40 years of age and affects approximately one-quarter of the global population. Up to October 2021, there were no approved pharmacotherapies for presbyopia, and common treatments, such as glasses, can have disadvantages for individuals' health-related quality of life. PURPOSE:This study aimed to document the experience of living with and managing presbyopia, identify perspectives on treatment options, and determine whether there is an unmet need in the treatment landscape.METHODS: Coded transcripts of concept elicitation (CE; n = 20) and cognitive debriefing (n = 20) interviews with presbyopic individuals, originally conducted for development of patient-reported outcome instruments, were reanalyzed to identify salient concepts describing participants' experiences with presbyopia treatments. Qualitative ranking exercises assessed participants' preferences for a potential pharmacotherapy vs. existing treatments.RESULTS: Because most concepts were identified with the CE interviews, data reflect CE findings unless otherwise noted. Average age across CE/cognitive debriefing interviews was 49.4 years; a vast majority of participants used glasses for presbyopia treatment. Four themes related to treatment with glasses were identified with the interviews: inconvenience during daily activities, negative physical sensations around the eyes/head, limitations, and undesirable impacts on daily life (e.g., psychosocial). Most commonly, participants reported inconveniences related to forgetting glasses and psychosocial impacts (e.g., feeling/looking older). Strained/tired eyes and limited ability to see at varying distances were also reported. Among participants with near-vision glasses who provided data, two-thirds expressed interest in alternative treatments. In addition, almost three-quarters of the participants ranked hypothetical eye drops as their first or second preferred option, vs. reading glasses, contact lenses, magnifying glasses, and surgery.CONCLUSIONS: This study explored the experience of living with and managing presbyopia and identified limitations and negative impacts of current treatments. Pharmacological development (e.g., eye drops) may fulfill an unmet need in the presbyopia treatment landscape.

Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available treatment other than symptomatic management. This research sought to obtain caregiver-reported data about the experience of living with and caring for someone with Kabuki syndrome to fill a gap in the available literature. Fifty-seven caregivers participated in an online survey and reported that Kabuki syndrome affected their children in a wide variety of ways, including a high frequency of visits to various healthcare professionals. Caregivers reported their child experienced problems with hearing, eating, eyes, mouth, immune system, anxiety, depression, autism, teeth, joints, seizures, kidneys, and heart. Caregivers also described the challenges of caring for someone with Kabuki syndrome, including an impact on emotional wellbeing and the ability to work outside the home. This unique research characterizes the caregiver experience of living with and caring for someone with Kabuki syndrome, both through observed manifestations of Kabuki syndrome in their own children and their experience managing their treatment. Additional research is needed to investigate the patient experience of living with Kabuki syndrome.

Introduction Acute hepatic porphyria (AHP) is a family of rare metabolic diseases characterized by potentially life-threatening acute attacks and, in some patients, chronic debilitating symptoms. While patients with frequent or recurrent attacks (three or more attacks annually) are known to have reduced health-related quality of life (HRQoL) as most aspects of daily living are impacted, limited data exist in patients with sporadic attacks. This research aims to identify porphyria-related symptoms between attacks, characterize the frequency, severity, and bothersomeness of these symptoms, and more generally understand the burden of this disease in patients who experience attacks sporadically. Methods Patients with AHP with sporadic attacks (AHP-SA) (at least one porphyria attack in the past 2 years, but no more than two attacks per year in the previous 2 years) were recruited, via outreach performed by patient advocacy groups, for participation in qualitative telephone interviews. Interviews were conducted using a semi-structured guide and were audio-recorded, transcribed, anonymized, coded, and analyzed to determine if saturation was reached. Results A total of 14 participants with AHP-SA were interviewed (mean age 45 years, 100% female). The most frequently reported chronic symptoms were fatigue, pain, heartburn, and constipation. The most frequently experienced chronic impacts were difficulty performing daily activities, difficulty exercising, negative impact on work, need for a special diet, anxiety, and depression. Beyond these chronic symptoms and impacts, participants also frequently described flares in their porphyria that were severe, did not qualify in their minds as an acute attack, but were nonetheless more severe than their typical chronic experience. Conclusion Patients with acute hepatic porphyria who experience sporadic attacks face significant chronic symptoms and impacts that frequently require significant pharmacological and clinical treatment. The reported severity of these symptoms and impacts suggests that the humanistic burden of AHP-SA is substantial and may lead to a significant decrease in health-related quality of life in these patients between acute attacks. The presence of flares that do not reach the level of what is considered an acute attack by patients is a unique finding of this study not reported elsewhere and requires additional investigation. Supplementary Information The online version contains supplementary material available at 10.1007/s12325-022-02172-8.

PRO instrument and the only instrument identified from all sources: clinical trials (n=30/971), HTA reports (n=11/13), published literature (n=8/29), and PROQOLID/PROLABELS (n=2/2). Use of other instruments in the literature and clinical trials was fragmented and limited to few sources. Many identified instruments measured immediate impacts associated with dry AMD (eg, dependency on others; poor spatial perception and mobility; difficulty reading, driving, and completing activities of daily living). However, no identified instrument adequately covered symptoms of dry AMD (eg, blurred vision, restricted visual fields). Instruments were also evaluated for their content validity and psychometrics. The PRO instruments with the strongest properties in the AMD population were the NEI-VFQ-25, Low Luminance Questionnaire, Macular Disease-Dependent Quality of Life, and Impact of Vision Impairment-Very Low Vision. Conclusions: These findings show that currently available/published instruments adequately measure disease impacts, but have limited inclusion of dry AMD symptoms. To fully capture the experience of patients with dry AMD, future clinical outcome assessment measures should include both symptoms and impacts.

Aim: This research was conducted to collect patient-reported data on the experience of living with Wilson disease and to broaden the existing knowledge of a rare neurometabolic disease with varied clinical manifestations. Materials & methods: Adult patients with Wilson disease or caregivers were recruited through a Wilson disease association or advocacy group, and asked to complete an online survey that assessed various aspects of living with Wilson disease. Survey data were analyzed descriptively. Results: 21 adults with Wilson disease completed the survey. Respondents reported experiencing signs, symptoms and diagnoses related to movement (e.g., involuntary muscle contractions [n = 9, 42.9%]), cognition (e.g., anxiety [n = 15, 71.4%]) and liver problems. Respondents most frequently reported medication regimen and financial burden as the most bothersome impacts of Wilson disease. Conclusion: The data expand the existing knowledge of this rare neurometabolic disease with heterogeneous clinical manifestations.