OBJECTIVE: Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets fall within the premutation range (PM) and can lead to different clinical conditions, including fragile X- primary ovarian insufficiency (FXPOI), fragile X-associated neuropsychiatric disorders (FXAND) and fragile X-associated tremor/ataxia syndrome (FXTAS). Although there is not a current cure for FXS and for the Fragile X-PM associated conditions (FXPAC), timely diagnosis as well as the implementation of treatment strategies, psychoeducation and behavioral intervention may improve the quality of life (QoL) of people with FXS or FXPAC. With the aim to investigate the main areas of concerns and the priorities of treatment in these populations, the Italian National Fragile X Association in collaboration with Bambino Gesù Children\'s Hospital, conducted a survey among Italian participants.
METHODS: Here, we present a survey based on the previous study that Weber and colleagues conducted in 2019 and that aimed to investigate the main symptoms and challenges in American individuals with FXS. The survey has been translated into Italian language to explore FXS needs of treatment also among Italian individuals affected by FXS, family members, caretakers, and professionals. Furthermore, we added a section designated only to people with PM, to investigate the main symptoms, daily living challenges and treatment priorities.
RESULTS: Anxiety, challenging behaviors, language difficulties and learning disabilities were considered the major areas of concern in FXS, while PM was reported as strongly associated to cognitive problems, social anxiety, and overthinking. Anxiety was reported as a treatment priority in both FXS and PM.
CONCLUSIONS: FXS and PM can be associated with a range of cognitive, affective, and physical health complications. Taking a patient-first perspective may help clinicians to better characterize the cognitive-behavioral phenotype associated to these conditions, and eventually to implement tailored therapeutic approaches.

BACKGROUND: There is a critical need for the development of improved outcome measures in Fragile X Syndrome (FXS). Because the majority of respondents of behavior outcome measures are caregivers or individuals with FXS, it is important to consider stakeholders\' firsthand experiences when designing a caregiver- or self-report measure.
OBJECTIVE: The current research study aimed to understand experiences of completing commonly used caregiver-/self-report measures of behavior in FXS via focus groups.
METHODS: This study employed a focus group methodology. Semi-structured focus groups were conducted with 22 caregivers and 3 self-advocates. All interviews occurred via secured videoconferencing. A thematic analysis was used to identify major themes and subthemes.
RESULTS: We identified four themes: (1) content of measure, (2) structure of the measure, (3) potential accommodations to complete measure, and (4) impact of measure on family. Importantly, focus groups revealed that certain aspects of content, structure, and implementation of the available measures were related to distress and negative emotions of caregivers of FXS and individuals with FXS themselves.
CONCLUSIONS: The focus group data yielded a wide range of feedback and has significant implications, highlighting the critical need to take key stakeholder perspectives into account when using and/or developing caregiver- or self-report measures for FXS.

BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematologic condition associated with significant morbidity, mortality, and impact on health-related quality of life (HRQoL). The burden of disease and experience of PNH patients on treatment is not well characterized in published scientific literature.
OBJECTIVE: The objective was to characterize the emotional and physical burden of illness of PNH and assess the real-world impact of pegcetacoplan, a recently approved C3 inhibitor, in addressing this disease burden.
METHODS: This mixed-methods study enrolled consenting adult PNH patients (>21 years old) in the US receiving treatment with pegcetacoplan for at least 3 months for in-depth telephone interviews. All respondents had received treatment with a C5 inhibitor prior to switching to pegcetacoplan.
RESULTS: Interim analysis results from 14 respondents (of a total 16 planned) are reported. Enrolled patients had a median age of 41.5 years (range 24-77) and an average of 5.8 months of pegcetacoplan experience. Patients described life with PNH as frustrating and emotionally exhausting, significantly impacting their HRQoL despite C5-inhibitor treatment. Fatigue was reported as the Most Bothersome Symptom by 86% of patients, as its persistence limits their ability to carry out daily commitments and activities, such as work/school and hobbies. After switching from C5 inhibitors to pegcetacoplan, patients reported a reduction in fatigue persistence (23% improvement on a 7-point Likert scale compared to C5 inhibitors), supporting a significant improvement in their physical ability, including ability to walk or jog (+60%), stress levels (+58%), and ability to carry out daily commitments, such as work or school (+44%). Patients also reported an overall improvement in quality of life on pegcetacoplan (+28%). Patients (93%) described feeling better or energized since initiating treatment with pegcetacoplan and believed that the therapy has given them the ability to regain a more normal life.
CONCLUSIONS: This study documents the high emotional and physical burden PNH has on patients\' lives reported using the Voice of the Patient. Study participants reported improvement in daily life quality measures, such as reduction in fatigue and stress and increases in ability to conduct daily activities.

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Academic institutions, pharmaceutical and biotechnology companies, foundations, and associations are routinely implementing patient advisory boards (PABs) to solicit patients\' voices and perspectives on a variety of clinical research-related areas, including protocol design, clinical trial execution, informed-consent form design, clinical trial medicine kit design, wearable devices and mobile technologies, and patient-communication materials. Based on experience conducting >50 PABs during the past several years, the authors provide insights into how to best plan and execute PABs and their value in informing improvement in patient engagement.

To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age of the individual with FXS. The results highlight the top priorities for treatment development for family members/caretakers, as well as a small group of professionals, and an even smaller group of individuals with FXS, while demonstrating challenges with \"voice of the patient\" research in FXS.