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Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients
Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and...
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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force
BackgroundMany patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous...
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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group
BackgroundTreatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of...
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Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
BackgroundAccording to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year....
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The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force
The number of available therapies for rare diseases remains low, as fewer than 6% of rare diseases have an approved treatment option. The...
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Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
BackgroundIn European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare...
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Orphan Medical Devices and Pediatric Cardiology – What Interventionists in Europe Need to Know, and What Needs to be Done
Medical devices include a great diversity of technologies, which are evaluated and approved in the European Union (EU) according to a revised law...
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The de novo FAIRification process of a registry for vascular anomalies
BackgroundPatient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across...
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How to START? Four pillars to optimally begin your orphan drug development
Drug development is a complex, resource intensive and long process in any disease area, and develo** medicines to treat rare diseases presents even...
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Datenstandards für Seltene Erkrankungen
The use of standardized data formats (data standards) in healthcare supports four main goals: (1) exchange of data, (2) integration of computer...
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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders
It has recently been suggested that registries for rare neuromuscular diseases should be formed and governed exclusively by physicians and patients...
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Unlocking sociocultural and community factors for the global adoption of genomic medicine
Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases—specifically, rare diseases....
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Recommendations for the design of small population clinical trials
BackgroundOrphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence...
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Reducing global health inequalities for a rare disorder: evaluating the international Prader–Willi Syndrome Organisation’s Echo® programme
BackgroundPeople with rare disorders face significant global health inequalities; the challenge is how to raise awareness and develop a nucleus of...
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Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases
BackgroundAcademic-sponsored trials for rare diseases face many challenges; the present paper identifies hurdles in the set-up of six multinational...
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Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
BackgroundThe conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare...
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Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model
Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are...
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The research output of rod-cone dystrophy genetics
Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research...
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A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
BackgroundRare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined....
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
BackgroundIn order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA)...
