Background: The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what patients want and need from rare disease research and data sharing is important to ensure their participation and engagement in the process, and to ensure that these wishes and needs are embedded within research design. EURORDIS-Rare Diseases Europe regularly surveys the rare disease community to identify its perspectives and needs on a number of issues in order to represent rare disease patients and be their voice within European and International initiatives and policy developments. Here, we present key findings from a large quantitative survey conducted with patients with rare diseases and family members as part of a continuous evidence-based advocacy process developed at EURORDIS. The aim of this survey was to explore patient and family perspectives on data sharing and data protection in research and healthcare settings and develop relevant recommendations to support shaping of future data sharing initiatives in rare disease research. This survey, translated into 23 languages, was carried out via the Rare Barometer Programme and was designed to be accessible to a diverse population with a wide range of education backgrounds. It was widely disseminated via patient organisations worldwide to ensure that a wide range of voices and experiences were represented.
Main Findings: Rare disease patients, regardless of the severity of their disease and their socio-demographic profile, are clearly supportive of data sharing to foster research and improve healthcare. However, rare disease patients' willingness to share their data does come with specific requirements in order to respect their privacy, choices and needs for information regarding the use of their data.
Conclusions: To ensure sustainability and success of international data sharing initiatives in health and research for rare diseases, appropriate legislations need to be implemented and multi-stakeholder efforts need to be pursued to foster cultural and technological changes enabling the systematic integration of patients' preferences regarding sharing of their own health data.
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http://dx.doi.org/10.1186/s13023-019-1123-4 | DOI Listing |
Am Fam Physician
January 2025
University of Kansas Medical Center, Kansas City.
Acute rhinosinusitis causes more than 30 million patients to seek health care per year in the United States. Respiratory tract infections, including bronchitis and sinusitis, account for 75% of outpatient antibiotic prescriptions in primary care. Sinusitis is a clinical diagnosis; the challenge lies in distinguishing between the symptoms of bacterial and viral sinusitis.
View Article and Find Full Text PDFPediatr Infect Dis J
January 2025
Pediatric Infectious Disease Department, University of Health Science, Ankara Bilkent Children City Hospital, Ankara, Turkey.
Adv Sci (Weinh)
January 2025
Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, 510260, China.
Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder characterized by a range of clinical manifestations with no effective treatment strategy to date. Here, transplantation of GABAergic precursor cells from the medial ganglionic eminence (MGE) is demonstrated to significantly improve cognitive performance in Fmr1 knockout (KO) mice. Within the hippocampus of Fmr1-KO mice, MGE-derived cells from wild-type donor mice survive, migrate, differentiate into functionally mature interneurons, and form inhibitory synaptic connections with host pyramidal neurons.
View Article and Find Full Text PDFAnn Med
December 2025
Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China.
Purpose: To evaluate levels of 3 tear-soluble neuropeptides in dry eye patients and to identify the correlations with clinical signs and symptoms.
Methods: A total of 16 dry eye patients and 12 healthy volunteers were enrolled. Dry eye disease (DED) diagnosis was based on the 2017 Report of the Tear Film & Ocular Surface Society International Dry Eye Workshop (TFOS DEWS II).
Liver Int
February 2025
Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.
Background: Alagille syndrome (ALGS) is a multisystem cholestatic disorder. Maralixibat is approved for the treatment of cholestatic pruritus in ALGS with limited data in adults.
Methods: Participants were included if they received ≥ 2 doses of maralixibat at age ≥ 16 years in one of the three previously published maralixibat ALGS clinical trials.
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