Rare Diseases & Orphan Drug | Mapi Research Trust

Articles

2019. Griego JC et al. – A Conceptual model of Angelman Syndrome and review of relevant clinical outcomes assessments (COAs)
2018. Kaufman HL et al. – Living with Merkel cell carcinoma (MCC): Development of a conceptual model of MCC based on patient experiences
2018. Bharmal M et al. – How to address the challenges of evaluating treatment benefits-risks in rare diseases? A convergent mixed methods approach applied within a Merkel cell carcinoma phase 2 clinical trial.
2018 Arnould B et al. – The patient’s voice in the evaluation of orphan drugs
2017. Maier WC et al. – Post-approval studies for rare disease treatments and orphan drugs
2017. Medic G et al. – A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis
2017. Jurecki E et al. – Development of the US English version of the Phenylketonuria – Quality of Life (PKU-QOL) Questionnaire
2016. MacDonald A et al. – The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK
2016. Giustina A et al. – SAGIT©: Clinician-reported outcome tool for managing acromegaly in clinical practice. Development and results from a pilot study
2015. Bosch AM et al. – Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
2015. Regnault A et al. – 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
2013. Eijgelshoven I et al. – The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in The Netherlands
2012. Regnault et al. – Validation of the Treatment Satisfaction Questionnaire for Medication in patients with cystic fibrosis
2012. Littlewood KJ et al. – A network meta-analysis of the efficacy of inhaled antibiotics for chronic pseudomonas infections in cystic fibrosis
2010. Verdian L et al. – Cost-utility analysis of rufinamide versus topiramate and lamotrigine for the treatment of children with Lennox-Gastaut Syndrome in the United Kingdom

Posters & Presentations

2017. RARE Meeting – Are patient-reported outcome measures (PROM) used in the evaluation of orphan drugs?
2017. ISPOR European Congress – PRO labeling for products approved by the European Medicines Agency (EMA) for narcolepsy
2017. ISPOR European Congress – Comparison of recent HTA appraisals of orphan drugs by NICE, SMC, and HAS in 2015- 2017
2017. ISPOR European Congress – Using convergent mixed methods to evaluate treatment risks and benefits in rare disease: An example from a Phase II registration trial in metastatic Merkel Cell Carcinoma
2017. DIA Annual Meeting – Why choosing a hybrid design? Insights from a study with Duchenne Muscular Dystrophy patients and caregivers
2017. DIA Annual Meeting – Developing the PKUQOL: A long journey to integrate the patients’ voice into phenylketonuria drug development programs
2017. ARVO Annual Meeting – Living with Usher’s syndrome Type 1: Development of a disease impact model from qualitative interviews with patients and their parents
2017. Annual World Symposium – From testimonials to qualitative research embedded in an MPSIIIA observational study
2016. ISPOR European Congress – Estimating the Utility Associated with Mode of Treatment Administration in Gaucher Disease
2016. ISPOR European Congress – A Systematic Literature Review of Cysteamine Bitartrate Preparations in Patients with Cystinosis
2016. ISPOR European Congress – 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?
2016. ISPOR Annual International Meeting – Patient-Reported Outcomes (PRO) Claims in Acromegaly: A Review of the Labels of Products Approved by the FDA and the EMA
2016. ISPOR Annual International Meeting – The Role of Clinical Outcome Assessment (COA) Data in the Drug Approval Process of Products for the Treatment of Duchenne Muscular Dystrophy in the USA and Europe: A Review of Guidance Documents and Authorizations of Medicinal Products
2016. ACMG Annual Meeting – Development of the US English Version of the Phenylketonuria – Quality of Life (PKU-QOL) Questionnaires
2015. Associated Professional Sleep Societies (SLEEP) Annual Meeting – Developing outcome measures for assessing narcolepsy with cataplexy in children and adolescents
2014. ISPOR European Congress – Can mixed methods research be the solution to the challenges of patient-centered outcome research in the context of rare diseases?
2014. ISPOR European Congress – Challenges in Recruiting Patients for the Linguistic Validation of PRO Instruments Developed for Rare Diseases: A Case Study with Alagille Syndrome
2014. ISPOR European Congress – PRO Claims in Orphan Medicines Approved by the European Medicines Agency (EMA) for the Treatment of Lymphoproliferative Disorders
2014. ISPOR European Congress – Psychometric Validation of Questionnaires Assessing the Impact of Phenylketonuria on Patients and Caregivers’ Quality of Life
2014. ISPOR European Congress – Orphan Drug Policy: Approaches to Market Access in Multiple Countries
2014. SSIEM Annual Symposium – Development and validation of disease-specific quality of life questionnaires for individuals with phenylketonuria and their patients
2014. ISPOR Annual International Meeting – Patient-Reported Outcome (PRO) Claims in Products Indicated for the Treatment of Rare Diseases and Approved by the European Medicines Agency (EMA)
2014. ISPOR Annual International Meeting – 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
2014. ECRD Conference – Patient-reported outcomes (PRO) claims in products indicated for the treatment of rare diseases and approved by the European Medicines Agency (EMA)
2013. ISPOR European Congress – Preliminary Testing of the SAGIT© Tool: A Tool to Help Endocrinologists in their Management of Patients with Acromegaly in Clinical Practice
2012. ISPOR European Congress – Characteristics of Long-Acting Somatostatin (SSA) Use in Acromegaly in the Netherlands
2008. ISPOR European Congress – Eliciting Utility Scores for Health States Associated with Lennox-Gastaut Syndrome