Fenfluramine treatment for Dravet syndrome: Caregiver- and clinician-reported benefits on the quality of life of patients, caregivers, and families living in Germany, Spain, Italy, and the United Kingdom.

OBJECTIVE: Clinical trial data and prior preliminary research indicate that fenfluramine (FFA) provides meaningful improvements in seizure-related and quality of life (QOL) outcomes for individuals with Dravet syndrome (DS), their caregivers, and their families. This study sought to replicate and extend these preliminary findings in a new sample of individuals with DS and their families who live in European countries. METHODS: Study participants were European clinicians and parents caring for individuals with DS who had participated in an EU FFA Early Access Program. Participants completed one-on-one semi-structured interviews and were asked the extent to which they noticed changes in a number of the child's seizure- and non-seizure-related QOL domains after starting FFA treatment. Participants were also asked about the benefits of FFA treatment to the caregivers' lives and for the family unit. RESULTS: 25 parent caregivers and 16 clinicians participated. The caregivers and clinicians reported improvements in both seizure-related (i.e., reductions in seizure activity, improvements in the frequency or type of seizure triggers and post-ictal recovery times, and improved post-seizure function) and non-seizure-related (e.g., cognition, focus, alertness, speech, academic performance, behavior, sleep, motor function) QOL domains after FFA treatment in individuals with DS. Caregivers also reported improved mood and more time for things they enjoyed, felt less overwhelmed, reported better sleep quality, and had less personal and family stress; clinicians corroborated most of these reports. All clinicians (100%) and most (96%) caregivers said they would "very likely" or "quite likely" recommend FFA to others with DS. CONCLUSIONS: Real-world experience in Europe with FFA treatment is associated with meaningful improvements in many QOL domains for individuals with DS and their families; replicating findings from a previous study of DS patients and their families from the USA. Caregivers and clinicians provided specific examples of the benefits of FFA for people with DS, caregivers, and their families and are very likely to recommend FFA to others with DS.

Fenfluramine treatment for dravet syndrome: Real-world benefits on quality of life from the caregiver perspective.

OBJECTIVE: Prior research has demonstrated durable and profound reductions in seizure frequency and improvements in executive functions in individuals with Dravet syndrome (DS) who are treated with fenfluramine (FFA). This study aimed to understand the benefits of FFA from the perspective of the patients' caregivers. METHODS: Caregivers for a child with DS participated in semi-structured interviews to discuss the benefits of FFA treatment on the child with DS, the caregiver, and the family. RESULTS: 65 caregivers participated. Patients were between 2 and 33 years old and had been treated with FFA for an average of 22.7 months. The most commonly reported seizure-related benefits (> 50 % of participants) of FFA treatment included a reduction in seizure activity, fewer seizure triggers, and shorter post-ictal recovery. The most common quality of life (QOL) benefits in patients included improvements in cognitive function, alertness, and academic performance. In addition, the caregivers reported improvements in their sleep quality (74 %) and that they felt less overwhelmed (72 %) and stressed (69 %) after their children began FFA treatment. Many caregivers also reported improved relationships between the child with DS and their siblings (52 %). CONCLUSIONS: The study found that FFA treatment is associated with meaningful improvement in a large number of QOL domains both for the people with DS who received FFA and their families.

Extension and Evaluation of the PROMIS Sexual Function and Satisfaction Measures for Use in Adults Living With Multiple Sclerosis.

BACKGROUND: Sexual dysfunction is a common symptom of multiple sclerosis (MS). Clinically meaningful and psychometrically sound measures of sexual function validated in people with MS are necessary to identify people with MS who experience problems with sexual function. AIM: To evaluate the Patient-Reported Outcomes Measurement Information System (PROMIS) Sexual Function and Satisfaction (SexFS) v2.0 measure in people with MS and to extend the PROMIS SexFS Brief and Full Profiles to include additional aspects of sexual function relevant to people living with MS. METHODS: A convenience sample of MS clinicians and sexually active individuals with MS ranked relevance of 26 items that listed specific factors that interfere with sexual function. Rankings were used to select items to include in the modified SexFS for Multiple Sclerosis (SexFS-MS) profiles. Sex-FS Brief and Full profiles along with the top 22 ranked interfering factor items underwent cognitive interviews (CI) to assess whether the items were understandable and meaningful. OUTCOMES: The SexFS as originally published functioned well in people with MS after minor modifications. RESULTS: Twelve MS clinicians and 26 people with MS ranked items. The 10 highest ranked questions about factors that interfere with sexual function most relevant to people with MS were added to the SexFS-MS Brief profiles and 18 to the Full profiles. Ten men and 12 women with MS participated in CIs and found most items to be clear and meaningful. However, important changes were made to the profile instructions, some response sets, and to some items to improve clarity and function. New items to assess numbness and reasons why sexually active people choose at times not to engage in sexual activity were added. CLINICAL IMPLICATIONS: Brief and Full profiles are freely available and are recommended for research and clinical practice that include people with MS. STRENGTHS & LIMITATIONS: This study is the first to provide validity evidence for the PROMIS SexFS in people living with MS. Though the PROMIS SexFS was tested in people who identify as lesbian, gay, or bisexual, only individuals who identified as heterosexual participated in this study. Results may not represent views of people with MS who identify as other sexual orientations who may have different concerns and priorities related to sexual function. CONCLUSION: This study extended the PROMIS SexFS Brief and Full profiles to create the SexFS-MS by adding items that measure most relevant issues related to sexual function in individuals living with MS. Amtmann D, Bamer AM, Salem R, et al. Extension and Evaluation of the PROMIS Sexual Function and Satisfaction Measures for Use in Adults Living With Multiple Sclerosis. J Sex Med 2022;19:719-728.