This is the first study that provides patient perspective on the burden of living with PK deficiency and lays the foundation for future studies to examine the effect of pharmacologic interventions on overall HRQoL for patients living with PK deficiency.

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.

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.

Introduction Currently recommended patient‐reported outcome (PRO) measures for patients with pyruvate kinase (PK) deficiency are non‐disease‐specific. The PK Deficiency Diary (PKDD) and PK Deficiency Impact Assessment (PKDIA) were developed to be more targeted measures for capturing the symptoms and impacts of interest to this patient population. Methods The instruments were developed based on concept elicitation interviews with 21 adults and modified based on 20 cognitive interviews. The domain structure and item concepts of the PKDD and PKDIA were compared with currently recommended measures, the EORTC QLQ‐C30 and the SF‐36v2®. Results The PKDD is a seven‐item measure of the core signs and symptoms of PK deficiency. The PKDIA is a 14‐item measure of the impacts of PK deficiency on patients’ health‐related quality of life (HRQoL). Minimal similarities were found between the new measures and the EORTC QLQ‐C30 (eg, 43% of concepts were similar to the PKDD; 42% were similar to the PKDIA) and SF‐36v2® (57% of concepts were similar to the PKDD; 17% were similar to the PKDIA). Conclusions The PKDD and PKDIA fill a gap in the existing outcomes measurement strategy for PK deficiency. Future work includes psychometric evaluation of these newly developed measures.