‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics

The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review

(2022) Christina Q. Nguyen et al.   Orphanet Journal of Rare Diseases

Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study

(2021) Miram K. Depping et al.   Orphanet Journal of Rare Diseases

A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region

(2021) Claudia Ching Yan Chung et al.   Orphanet Journal of Rare Diseases

New ethical challenges in the management of rare pediatric diseases with innovative therapies

(2021) M. Dufosset et al.   ARCHIVES DE PEDIATRIE

Viral gene therapy for paediatric neurological diseases: progress to clinical reality

(2021) Riccardo Privolizzi et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Progress, challenges and global approaches to rare diseases

(2021) Stephen C. Groft et al.   ACTA PAEDIATRICA

Medicine’s collision with false hope: The False Hope Harms (FHH) argument

(2020) Marleen Eijkholt   BIOETHICS

Contribution of patient organisations to the NCLs

(2020) Heather Band et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Great expectations: virus-mediated gene therapy in neurological disorders

(2020) Didu Kariyawasam et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Spinal muscular atrophy — the dawning of a new era

(2020) Michelle A. Farrar et al.   Nature Reviews Neurology

The urgent need to empower rare disease organizations in China: an interview-based study

(2020) Xuefeng Li et al.   Orphanet Journal of Rare Diseases

The patient’s view on rare disease trial design – a qualitative study

(2019) C. M. W. Gaasterland et al.   Orphanet Journal of Rare Diseases

The role of patient organizations in the rare disease ecosystem in India: an interview based study

(2019) Mohua Chakraborty Choudhury et al.   Orphanet Journal of Rare Diseases

The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust

(2019) Beni Gómez-Zúñiga et al.   Orphanet Journal of Rare Diseases

Integrating patient perspectives in medical decision-making: a qualitative interview study examining potentials within the rare disease information exchange process in practice

(2019) Ana Babac et al.   BMC Medical Informatics and Decision Making

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland

(2019) Ashleen L. Crowe et al.   Frontiers in Public Health

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

(2019) Erik Tambuyzer et al.   NATURE REVIEWS DRUG DISCOVERY

Evaluating The Impact Of The Orphan Drug Act’s Seven-Year Market Exclusivity Period

(2018) Ameet Sarpatwari et al.   HEALTH AFFAIRS

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

(2018) Susan Stein et al.   Orphanet Journal of Rare Diseases

Children and Adults With Rare Diseases Need Innovative Medical Devices

(2018) Vasum Peiris et al.   Journal of Medical Devices-Transactions of the ASME

Characterising and justifying sample size sufficiency in interview-based studies: systematic analysis of qualitative health research over a 15-year period

(2018) Konstantina Vasileiou et al.   BMC Medical Research Methodology

Building the patient community

(2017) F Raffai et al.   GENE THERAPY

Rare disease registries: a call to action

(2017) Paul Lacaze et al.   INTERNAL MEDICINE JOURNAL

Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities

(2017) Heather Mae Rocha et al.   Journal of Genetic Counseling

Rare Diseases on the Internet: An Assessment of the Quality of Online Information

(2017) Frédéric Pauer et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

Rare advances for rare diseases

(2017) The Lancet Neurology   LANCET NEUROLOGY

Series: Practical guidance to qualitative research. Part 4: Trustworthiness and publishing

(2017) Irene Korstjens et al.   European Journal of General Practice

‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

(2016) Pauline McCormack et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

(2016) Caroline E. Walker et al.   GENETICS IN MEDICINE

Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers

(2016) T. Morel et al.   Orphanet Journal of Rare Diseases

The involvement of patient organisations in rare disease research: a mixed methods study in Australia

(2016) Deirdre Pinto et al.   Orphanet Journal of Rare Diseases

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

(2015) Inés Adriana Cismondi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

Patient engagement in research: a systematic review

(2014) Juan Pablo Domecq et al.   BMC HEALTH SERVICES RESEARCH

A Systematic Review of Approaches for Engaging Patients for Research on Rare Diseases

(2014) Laura P. Forsythe et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

The Role of Patient Advocacy Organizations in Shaping Genomic Science

(2013) Pei P. Koay et al.   Annual Review of Genomics and Human Genetics

Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy

(2013) Anna Mayhew et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Achieving Integration in Mixed Methods Designs-Principles and Practices

(2013) Michael D. Fetters et al.   HEALTH SERVICES RESEARCH

Clinical Trials in Rare Disease

(2013) Erika F. Augustine et al.   JOURNAL OF CHILD NEUROLOGY

Research Guidelines in the Era of Large-scale Collaborations: An Analysis of Genome-wide Association Study Consortia

(2012) Melissa A. Austin et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

How disease advocacy organizations participate in clinical research: a survey of genetic organizations

(2012) David C. Landy et al.   GENETICS IN MEDICINE

The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example

(2011) Angela P. Black et al.   EPILEPSIA

The answer is 17 years, what is the question: understanding time lags in translational research

(2011) Zoë Slote Morris et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

Negative results are disappearing from most disciplines and countries

(2011) Daniele Fanelli   SCIENTOMETRICS

Generating sociability to drive science: Patient advocacy organizations and genetics research

(2010) Aaron Panofsky   SOCIAL STUDIES OF SCIENCE