Rare Diseases & Orphan Drugs
- The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK.
- SAGIT©: Clinician-Reported Outcome Tool for Managing Acromegaly in Clinical Practice. Development and Results from a pilot study.
- Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries.
- Impact of severe haemophilia A on patients’ health status: results from the guardian™ 1 clinical trial of turoctocog alfa (NovoEight®).
- Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires.
- The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in The Netherlands.
- A network meta- analysis of the efficacy of inhaled antibiotics for chronic pseudomonas infections in cystic fibrosis.
- Validation of the Treatment Satisfaction Questionnaire for Medication in patients with cystic fibrosis.
- Future characteristics of bypassing agents to improve care of hemophilia inhibitor patients: an economic and health-related quality of life perspective.
- Cost-Utility analysis of rufinamide versus topiramate and lamotrigine for the treatment of children with Lennox-Gastaut Syndrome in the United Kingdom.
- Satisfaction and Adherence in Patients with Iron Overload Receiving Iron Chelation Therapy as Assessed by a Newly Developed Patient Instrument.
- Evaluation of the reliability and validity of the Medical Outcomes Study sleep scale in patients with painful diabetic peripheral neuropathy during an international clinical trial.
- Iron chelation therapy: clinical effectiveness, economic burden and quality of life in patients with iron overload.
Posters & Presentations
- From Testimonials to Qualitative Research Embedded in Clinical Trials: How do HTA Bodies Consider the Voice of Rare Disease Patients When Granting Access to Orphan Drugs?
- Estimating the Utility Associated with Mode of Treatment Administration in Gaucher Disease
- A Systematic Literature Review of Cysteamine Bitartrate Preparations in Patients with Cystinosis
- Psychometric Validation of Questionnaires Assessing the Impact of Phenylketonuria on Patients and Caregivers’ Quality of Life
- Development and validation of disease-specific quality of life questionnaires for individuals with phenylketonuria and their patients
- Patient-Reported Outcome (PRO) Claims in Products Indicated for the Treatment of Rare Diseases and Approved by the European Medicines Agency (EMA)
- The Role of PRO Data in the Drug Approval Process of Products for the Treatment of Cystic Fibrosis in the USA and Europe: A Review of Guidance Documents and Authorizations of Medicinal Products
- Orphan Drug Policy: Approaches to Market Access in Multiple Countries
- PRO Claims in Orphan Medicines Approved by the European Medicines Agency (EMA) for the Treatment of Lymphoproliferative Disorders
- Challenges in Recruiting Patients for the Linguistic Validation of PRO Instruments Developed for Rare Diseases: A Case Study with Alagille Syndrome
- Development of the US English Version of the Phenylketonuria – Quality of Life (PKU-QOL) Questionnaires