Study to Assess Content Validity and Interrater and Intrarater Reliability of the Inclusion Body Myositis Functional Rating Scale.

Background And Objectives: Sporadic inclusion body myositis (IBM) is a rare, muscle-wasting disease that negatively affects health-related quality of life. Although a measure that has been developed to assess the impact of IBM, the IBM Functional Rating Scale (IBMFRS) has limited evidence of content validity or reliability, and what constitutes a meaningful change threshold; this study was conducted to address these gaps.

Methods: Adult patients with a clinical diagnosis of IBM from the United Kingdom and disease area expert health care professionals from the United States and United Kingdom took part in this study.

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.

Background: Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients' and caregivers' quality of life (QOL) and reduces the patient's life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients' and caregivers' daily lives to understand the burden of disease.

Results: A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months-65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients' and caregivers' activities of daily living (ADLs) and health-related QOL (HRQOL).

International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.

Background: Several scales have been developed in the past two decades to evaluate Niemann-Pick disease Type C (NPC) severity in clinical practice and trials. However, a lack of clarity concerning which scale to use in each setting is preventing the use of standardised assessments across the world, resulting in incomparable data sets and clinical trial outcome measures. This study aimed to establish agreed approaches for the use of NPC severity scales in clinical practice and research.

Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

Background: Niemann-Pick disease type C (NPC) is a rare, progressive, neurodegenerative disease associated with neurovisceral manifestations resulting from lysosomal dysfunction and aberrant lipid accumulation. A multicentre, prospective observational study (Clinical Trials.gov ID: NCT02435030) of individuals with genetically confirmed NPC1 or NPC2 receiving routine clinical care was conducted, to prospectively characterize and measure NPC disease progression and to investigate potential NPC-related biomarkers versus healthy individuals.