Assessment of joint health in patients receiving prophylaxis for haemophilia A: a cross-sectional survey in five European countries.

OBJECTIVES: To evaluate joint health, pain and health-related quality of life (HRQoL) in patients with moderate/severe haemophilia A in Europe. DESIGN: Multinational, cross-sectional survey, with retrospective data collection. Data were taken from the Adelphi Real World Haemophilia Disease Specific Programme Wave II, using surveys completed by physicians and patients between February 2020 and May 2021. SETTING: Haematologists/haemato-oncologists and their patients in France, Germany, Italy, Spain and the UK. PARTICIPANTS: Males aged ≥18 years with moderate or severe haemophilia A (baseline clotting factor level ≤5%), without existing inhibitors and currently receiving prophylaxis. Patients were grouped into those with or without haemophilia-affected joints (HAJs) based on bleeding, radiographic, surgical, mobility and joint pain data. PRIMARY OUTCOME MEASURE: Characterisation of humanistic and clinical outcomes in patients with or without HAJs. RESULTS: A total of 120 physicians provided data for 351 eligible patients; 209 (59.5%) patients had HAJs and 142 (40.5%) had no HAJs. Pain/discomfort was significantly different (p=0.01) and reported more frequently in the HAJ (85.7%) vs non-HAJ group (53.3%). Pain medication use was significantly higher in the HAJ versus non-HAJ group (73.2% vs 60.6%; p=0.01). Up to half of the patients with HAJs had synovitis (49.8%) or arthropathy (48.4%), and one-third had undergone joint surgery (35.4%). Overall health status was significantly worse in the HAJ versus non-HAJ group (mean (SD) EuroQol Visual Analogue Scale score: 65.5 (19.3) vs 81.1 (14.6); p=0.01). CONCLUSIONS: In this multinational real-world study, nearly two-thirds of adults with moderate/severe haemophilia A without inhibitors experienced HAJs despite prophylaxis. Individuals with HAJs had higher rates of pain and pain medication use, and lower HRQoL compared with those without HAJs. These data indicate that HAJs represent a clinically relevant burden and early identification/monitoring and management of affected joints should be an important consideration to help prevent long-term joint morbidity.

Physician- and patient-reported perspectives on myasthenia gravis in Europe: a real-world survey.

BACKGROUND: Myasthenia gravis (MG) is a rare, chronic, debilitating, unpredictable, and potentially life-threatening neuromuscular disease. There is a lack of real-world data on disease management that could be used to further understand and address unmet patient needs and burden. We aimed to provide comprehensive real-world insights in the management of MG in five European countries. METHODS: Data were collected using the Adelphi Real World Disease Specific Programme™ in MG, a point-in-time survey of physicians and their patients with MG in France, Germany, Italy, Spain, and the United Kingdom (UK). Physician- and patient-reported clinical data were collected, including demographics, comorbidities, symptoms, disease history, treatments, healthcare resource utilization (HCRU), and quality of life outcomes. RESULTS: In total, 144 physicians completed 778 patient record forms from March to July 2020 in the UK, and from June to September 2020 in France, Germany, Italy and Spain. Mean patient age at symptom onset was 47.7 years, with a mean time from symptom onset to diagnosis of 332.4 days (10.97 months). At diagnosis, 65.3% of patients were classified as Myasthenia Gravis Foundation of America Class II or above. Mean number of symptoms reported at diagnosis per patient was five, with ocular myasthenia reported in at least 50% of patients. At time of survey completion, the mean number of symptoms reported per patient was five and ocular myasthenia and ptosis were each still present in more than 50% of patients. Acetylcholinesterase inhibitors were the most commonly prescribed chronic treatments in all countries. Of 657 patients treated with chronic treatment at the time of the survey, 62% continued to experience moderate-to-severe symptoms. On average, 3.1 healthcare professionals (HCPs) were involved in patient management, 6.2 consultations were made per patient with any HCP over the last 12 months, and 178 (22.9%) patients were hospitalized in the last 12 months. Overall, HCRU and disease management were similar across all countries. CONCLUSIONS: Our findings demonstrated the high burden of MG despite current treatment options for patients with MG.

Physician-Reported Perspectives on Myasthenia Gravis in the United States: A Real-World Survey.

INTRODUCTION: Myasthenia gravis (MG) is a rare, debilitating, chronic disorder caused by the production of pathogenic immunoglobulin G autoantibodies against the neuromuscular junction. A lack of real-world studies in rare diseases reflects a relatively limited understanding of the significant unmet needs and burden of disease for patients. We aimed to provide comprehensive real-world insights into the management and burden of MG from treating physicians in the United States (US). METHODS: Data were collected using the Adelphi Real World MG Disease Specific Programme™, a point-in-time survey of physicians and their patients with MG, in the US between March and July 2020. Physician-reported clinical data, including demographics, comorbidities, symptoms, disease history, treatments, and healthcare resource utilization, were collected. RESULTS: In total, 456 patient record forms were completed by 78 physicians based in the US. At time of survey completion, patient mean age was 54.5 years. Mean time from symptom onset to diagnosis was 9.0 months (n = 357). Ocular symptoms were reported in 71.7% of patients. General fatigue affected 47.1% of patients and over half of those reported the severity as moderate or severe (59.5%, n = 128). Acetylcholinesterase inhibitors and/or steroids were the most frequently prescribed first-line treatment type among patients receiving treatment at time of survey completion and with moderate-to-severe symptoms (77.9%, n = 159/204). High-dose steroids (n = 14) and intravenous immunoglobulin (n = 13) were the most prescribed acute treatments among those receiving an acute treatment at time of survey completion (n = 36), with symptom exacerbations or myasthenic crises being the most common reasons for acute treatment. On average, 2.5 healthcare professionals were involved in patient management and 5.0 consultations were made per patient over the last 12 months. CONCLUSIONS: Our findings indicated that, despite treatment, there is a proportion of patients with MG in the US who had a significant need for improved disease management.

Disease course and treatment patterns in progressive supranuclear palsy: A real-world study.

BACKGROUND: Progressive supranuclear palsy (PSP) is a neurodegenerative disorder with symptoms including vertical gaze palsy, frequent falls, abnormal gait, and cognitive/language/behavioral changes, making diagnosis and treatment challenging. METHODS: Descriptive analysis was undertaken of cross-sectional, real-world data for patients with PSP provided by neurologists in France, Germany, Italy, Spain, UK, and USA. RESULTS: Data on 892 PSP patients were obtained from patient records. Common initial symptoms included difficulty walking/maintaining gait, confusion/disorientation, loss of balance/falling, and rigidity. These symptoms and vertical gaze palsy commonly aided diagnosis. At data collection, dysphagia and blepharospasm were also very common. Mean times from symptom-onset to consulting a healthcare professional and PSP diagnosis were 5.2 and 15.0 months, respectively. General practitioners or movement disorder specialists were most commonly consulted initially; 98% of patients were diagnosed with PSP by a movement disorder specialist or general neurologist. Alternative diagnoses, including Parkinson's disease (67%) and dementia (10%), were considered for 41% of patients prior to PSP diagnosis. Non-wheelchair walking aids and wheelchairs were used by 60% and 23% of patients, respectively, with mean times from symptom-onset to use being 20.8 and 39.5 months, respectively. Symptomatic medication, most often levodopa and antidepressants, was prescribed for 87% of patients. CONCLUSION: This study provided information on disease course and treatment for a large number of PSP patients from various countries. PSP carries a considerable clinical burden. Diagnosis is often delayed. Consulting a movement disorder specialist might expediate diagnosis. Currently, only symptomatic treatments are available with a poor satisfaction, and there is an urgent need for disease-modifying agents.