The Challenge for Orphan Drugs Remains: Three Case Studies Demonstrating the Impact of Changes to NICE Methods and Processes and Alternative Mechanisms to Value Orphan Products.

Background: The National Institute for Health and Care Excellence (NICE) is responsible for ensuring that patients in England and Wales can access clinically and cost-effective treatments. However, NICE's processes pose significant reimbursement challenges for treatments for rare diseases. While some orphan medicines have been appraised via the highly specialised technology route, most are appraised via the single technology appraisal programme, a route that is expected to be increasingly used given new more restrictive highly specialised technology criteria.

Survival after acute episodes of immune-mediated thrombotic thrombocytopenic purpura (iTTP) - cognitive functioning and health-related quality of life impact: a descriptive cross-sectional survey of adults living with iTTP in the United Kingdom.

Objectives: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is an ultra-rare life-threatening thrombotic microangiopathy affecting adults with unpredictable disease onset and acute presentation. This study aimed to describe the health-related quality of life (HRQoL), cognitive functioning and work productivity of survivors following acute episode(s) of iTTP in the United Kingdom (UK).

Methods: An online survey was developed in collaboration with the TTP Network.

Development of a New Quality of Life Measure for Duchenne Muscular Dystrophy Using Mixed Methods: The DMD-QoL.

Objective: Based on concerns about existing patient-reported outcome measures (PROMs) for assessing quality of life (QoL) in Duchenne muscular dystrophy (DMD), we describe the mixed methods development of a new QoL PROM for use in boys and men with DMD: the DMD-QoL.

Methods: The DMD-QoL was developed in 3 stages. First, draft items were generated from 18 semistructured qualitative interviews with boys and men with DMD, analyzed using framework analysis.