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Congenital aniridia is a rare genetic disorder of the eye characterized by visual impairment and progressive vision loss. While prior research has focused on ocular manifestations in individuals with aniridia, there is a dearth of research on impacts on cognition and mental health. The aims of this study were to describe subjective symptoms of everyday executive functioning, fatigue and sleepiness in adults with aniridia and to compare self-reported health status with that of a normative reference group. Twenty-nine adults (aged 18–79 years) with congenital aniridia were included in this online survey, of whom 52% were females. Participants completed self-report measures of executive functioning (The Behavior Rating Inventory of Executive Function–Adult Version), sleepiness, fatigue, and health status (EQ-5D-5L). Participants reported relatively few problems in everyday executive functioning, with only 14% experiencing impaired executive functioning. Scores on the five EQ-5D-5L domains (mobility, self-care, usual activities, pain, and anxiety/depression) did not differ from those of the normative reference group. The frequencies of excessive daytime sleepiness and severe fatigue were 17% and 38%, respectively. Ocular pain was experienced by 62% of participants. The findings show that cognitive problems are related to and reflect self-reported health status and extent of fatigue. Moreover, those who suffered from ocular pain reported more difficulties with executive functioning, sleepiness and fatigue. These findings are important for understanding this disorder and supporting patients. [ABSTRACT FROM AUTHOR]

Rare disorders impact millions of children worldwide, and developing new medicines in this setting is associated with multiple challenges. In this paper, we share a successful story of how real-world data (RWD) were leveraged to accelerate evidence generation and patient access to a life-changing therapy in patients with severe manifestations of PIK3CA-related overgrowth spectrum who require systemic therapy. Despite all the existing regulatory guidelines considering real-world evidence (RWE), there is limited regulatory precedent of the use of this framework in support of a new indication. Thus, our case study illustrates design innovations based on the use of a compassionate use program, primarily in children, as a RWD source for approval of a new therapy in a rare disorder. We highlight the systematic considerations and mitigation of potential sources of bias in order to transform the data into actionable evidence. Our experience shows that RWE can be successfully used with appropriate study planning and mitigation in the context of a rare disorder with a high unmet medical need. Some lessons learned from this case study can benefit therapeutic development in rare disorders. [ABSTRACT FROM AUTHOR]

The National Organization for Rare Disorders, or NORD®, is a robust resource suitable for patients, families, clinicians, researchers, and advocates of those living with or impacted by rare diseases. Given that rare diseases affect around 30 million people in the United States, half of which are estimated to be children, it is vital to have access to credible and accessible information. An added bonus of NORD is their staunch advocacy platform, which brings to light other consumer health information which may otherwise be hard to find. This consumer health resource review covers the consumer-focused aspects of NORD. [ABSTRACT FROM AUTHOR]

The National Organization for Rare Disorders, or NORD®, is a robust resource suitable for patients, families, clinicians, researchers, and advocates of those living with or impacted by rare diseases. Given that rare diseases affect around 30 million people in the United States, half of which are estimated to be children, it is vital to have access to credible and accessible information. An added bonus of NORD is their staunch advocacy platform, which brings to light other consumer health information which may otherwise be hard to find. This consumer health resource review covers the consumer-focused aspects of NORD. [ABSTRACT FROM AUTHOR]

Objective: There are more than 6,000 known rare diseases (RDs), which are often serious, chronic, and progressive conditions. Cumulatively, having a RD is actually common, impacting an estimated 300 million people worldwide. While the stigmatization of some specific RDs has been studied, examining stigma in a large sample of many RDs allows for a broader understanding of patterns. Design: We used inductive qualitative content analysis to analyze survey responses to an open-ended question about challenges of living with a RD among 384 people with 178 distinct RDs. Results: We identified eight codes which were organized under the following three themes: structurally enacted, interpersonally enacted, and felt stigma. People with RDs experience structurally enacted stigma in the forms of healthcare stigma, education/workplace stigma, and an overall lack of accessibility. They also face interpersonally enacted stigma, including insufficient social support, a lack of understanding from others, and capitalist norms of productivity and self-sufficiency. Additionally, they experience felt stigma related to shame and the pressure to pass as able-bodied. Conclusion: Possible solutions to RD stigma include increased education about RDs for healthcare professionals, a societal shift towards prioritizing accessibility, strengthened legal protections for disabled people, and expanded disability justice-focused community organizing. [ABSTRACT FROM AUTHOR]

Costello syndrome is a rare genetic disorder that affects virtually all aspects of an individual's life. Few specialists have been trained to understand the condition and provide guidance to caregivers and virtually no traditional information sources (e.g. books, websites) exist to provide information to caregivers. In this case, the community becomes a major source of information for caregivers of individuals with this condition. This study examines the types of information that need to be expressed in one of these communities: an online Facebook group. The categories of information need to be identified in the study to demonstrate areas of concern to caregivers and offer areas for further research or publication for researchers of rare disorders and health conditions. The role of information professionals in satisfying these information needs of caregivers of individuals with Costello syndrome and other rare disorders. [ABSTRACT FROM AUTHOR]

InterRett, International Rett Syndrome Association (IRSA) Rett Phenotype Database, is a unique international project funded by the IRSA, which brings together child neurologists, geneticists, paediatricians, epidemiologists, researchers and families of affected children. The principal aim of InterRett is to increase the clinical understanding of Rett syndrome throughout the world and with the statistical power of large case numbers, determine any correlations between genotype and the phenotypic characteristics. Since establishment of the database in January 2003, InterRett has registered 286 cases from 24 countries, with family questionnaire data submitted on 242 cases and clinician data on 116 cases. Collated de-identified data gathered from families and clinicians have been incorporated into a searchable online database allowing simple and complex interrogation of the clinical phenotype information. InterRett will also serve as a clearing house for data to encourage inter-country collaboration between researchers and negotiations are in place with several countries for data contributions in excess of 1000 cases. The resulting online database will be an invaluable resource for understanding the nature and management of Rett syndrome, as well as providing a model for other rare childhood disorders. [ABSTRACT FROM AUTHOR]