Rare Disease Resources

This is a continuously growing compilation of resources, initiatives, partnerships, consortia, networks, platforms, directories, registries, patient organisations, etc. of relevance to rare conditions, orphan medicinal products, cell and gene therapy. We hope that you will find this resource collection useful in your daily work to positively impact the lives of persons living with a rare condition.  The blue highlighted external links are current as accessed in May 2019 (note that ORPHA Strategy is not responsible for the content of the external sites). 

• European Commission Orphan Medicinal Products - latest approvals and designations,  EU action plan, impact reports, guidelines
• European Commission Rare Diseases Policy and Links Page
• European Commission Expert Group on Safe and Timely Access to Medicines for Patients ("STAMP") 
• European Expert Group of Orphan Drug Incentives - OD Expert Group Recommendations
• European Commission Supporting rare diseases registries and providing a European Platform for rare diseases registration
• European Platform on Rare Disease Registration (EU RD Platform) aims to provide researchers, healthcare providers, patients and policy-makers with a consistent instrument to improve knowledge, diagnosis and treatment of rare diseases. It will make registries' data searchable at EU level and will standardise data collection and data exchange >> ERDRI.dor - The European Directory of Registries - search tool, provides an overview of the participating registries with their main characteristics and descriptions.
• European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialised treatment, and concentrated knowledge and resources.
  >> List and webpage links of the 24 ERNs   >> EURORDIS ERN Page
• The Heads of Medicines Agencies (HMA) is a network of the heads of the National Competent Authorities (NCA) whose organisations are responsible for the regulation of medicinal products for human and veterinary use in the European Economic Area. HMA Publications - Working Groups
• The Innovative Medicines Initiative (IMI) and IMI Get Real
• Advancing Evidence Generation for New Drugs - IMI GetReal’s Recommendations on Real-World Evidence
• GetReal PragMagic - Pragmatic Trial Resources
• Real-world evidence (RWE) Navigator by IMI Get Real - education, guidance, directory of RWE resources
• EMIF (IMI) - European Medical Information Framework. One platform for data discovery, assessment and (re)use: EMIF Data Catalogue
• RD Connect - Connecting rare disease researchers worldwide: RD-Connect is an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
• RD Connect - Rare Disease Registry and Biobank Directory
• EJP RD - The European Joint Programme on Rare Diseases brings over 130 institutions from 35 countries to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research, care and medical innovation
• BD4BO (IMI) - Big Data for Better Outcomes is a comprehensive European research programme aiming to develop key enablers to support health care system transformation through the use of big data (includes ROADMAP and HARMONY)
• HARMONY (IMI) - Healthcare alliance for resourceful medicines offensive against neoplasms in hematology. The HARMONY project aims to use ‘big data’ to deliver information that will help to improve the care of patients with these diseases
• EHDN (IMI) - European Health Data & Evidence Network - central to EHDEN will be the standardisation of health data to the OMOP common data model and the adoption of analytical tools developed by the international Observational Health Data Sciences and Informatics (OHDSI) open science collaboration (www.ohdsi.org)
• OHDSI Europe - the Observational Health Data Sciences and Informatics (or OHDSI, pronounced "Odyssey") program is a multi-stakeholder, interdisciplinary collaborative to bring out the value of health data through large-scale analytics. OHDSI aims to generate accurate, reproducible, and well-calibrated evidence and promote better health decisions and better care.
• The European Patients’ Academy (EUPATI) is a pan-European project implemented by a multi-stakeholder consortium from the pharmaceutical industry, academia, not-for-profit, and patient organisations. EUPATI case examples of patient involvement.
• Big Data For Patients (BD4P) - a replicable training program, gives patient advocates a basic understanding of the science and enables full and effective participation in big data initiatives, includes tools and best practices  (Reagan-Udall Foundation for the FDA)
• ADAPT SMART platform for the coordination of Medicines Adaptive Pathways to Patients (MAPPs) activities
• EUnetHTA European Network for Health Technology Assessment
• PARENT (PAtient REgistries iNiTiative) and PARENT Registry of Registries (RoR)
• COMET (Core Outcome Measures in Effectiveness Trials) Initiative
• Europe PMC is a repository, providing access to worldwide life sciences articles, books, patents and clinical guidelines
• Orphanet, the reference portal for information on rare diseases and orphan drugs
• OrphaNews, electronic newsletter presenting an overview of scientific and political news about rare diseases and orphan drugs
• Orphanet Reports Series, texts covering topics relevant to all rare diseases, new reports are regularly put online and periodically updated
• ORPHADATA - access to aggregated data from Orphanet - updated monthly - clinical entities, epidemiological data, orphan designations and drugs, disease-gene relationships, phenotypic annotations, diagnostic tests
• Orphanet Rare Disease Registries in Europe Report (PDF), updated May 2018
• RD-ACTION Data and Policies for Rare Diseases - an integrated, European approach to the challenges faced by the rare diseases community
• Post-authorisation efficacy studies (PAES), EMA scientific guidance
• EURORDIS is a patient-driven alliance of patient organisations representing 733 rare disease patient organizations in 64 countries
• Rare Barometer Voices - a community of people living with a rare disease who are willing to participate in EURORDIS-Rare Diseases Europe surveys and studies, including rare survey results
• Rare IMPACT a EURORDIS initiated patient-focused collaboration that seeks to improve patients’ access to gene an cell therapy for people living with rare diseases in Europe
• EPF - European Patients Forum: an umbrella organisation that works with patients’ groups in public health and health advocacy across Europe. 
• European networks of reference for rare diseases
• PFMD - Patient Focused Medicines Development - global framework and platform for patient engagement, quality guidelines and good practices, 30 international members
• PARADIGM is a public-private partnership and is co-led by the European Patients’ Forum and EFPIA; it's mission is to provide a unique framework that enables structured, effective, meaningful, ethical, innovative, and sustainable patient engagement (PE) and demonstrates the ‘return on the engagement’ for all players. 
• PREFER looks at how and when it is best to perform and include patient preferences in decision making during the medical product life cycle. We include patient stakeholders at every level of the project. The end-result will be recommendations to support development of guidelines for industry, Regulatory Authorities and HTA bodies. PREFER Publications list.
• PCORI - Patient Centered Outcomes Initiative - Improving Outcomes Important to Patients, PCORI funds studies that can help patients and those who care for them make better-informed healthcare choices
• PCORnet, the National Patient-Centered Clinical Research Network, is an innovative initiative of PCORI; it is designed to make it faster, easier, and less costly to conduct clinical research than is now possible by harnessing the power of large amounts of health data and patient partnerships; it is transforming the culture of clinical research from one directed by researchers to one driven by the needs of patients and those who care for them
• FasterCures is a US-based action tank that works to speed and improve the medical research system, focussed on patient centricity. 10,000 diseases. 500 treatments. We have work to do.
• FasterCures Patient-Focused Drug Development (PFDD) Meeting Resources, including links to the FDA PFDD resources
• FasterCures' 21st Century Cures Act Tracker, regularly updated to keep track of the implementation of the 100+ sections in Division A, which include the key provisions relevant to biomedical research and innovation. 
• Patients Count Network - A searchable digital directory of patient foundations (US based)
• ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world
• The ISRCTN registry is a primary clinical trial registry recognised by WHO and ICMJE that accepts all clinical research studies (whether proposed, ongoing or completed), providing content validation and curation and the unique identification number necessary for publication. All study records in the database are freely accessible and searchable.
• World Health Organisation (WHO) International Clinical Trials Registry Platform
• CenterWatch Clinical Trial Listings Service
• The European Union electronic Register of Post-Authorisation Studies (EU PAS Register)
• RoPR - Registry of Patient Registries is a database of registry specific information intended to promote collaboration, reduce redundancy, and improve transparency.
• Cost-Effectiveness Analysis (CEA) Registry - The CEA Registry is a comprehensive database of 8,056 cost-utility analyses on a wide variety of diseases and treatments published from 1976 to 2018 - TUFTS Medical Center, 2019
• EuroScan International Network  is a collaborative network of agencies and scientific association of individuals and institutions for the sharing of information and development of methods for the early identification and awareness of key new, emerging or obsolete health-related technologies.
• INAHTA The International Network of Agencies for Health Technology Assessment - Publications
• NICE National Institute for Health and Care Excellence (UK NHS) - Evidence search
• MIT NEWDIGS: where it all began. MIT’s NEW Drug Development ParadIGmS program is a unique collaborative “think and do” tank focused on enhancing the capacity of the global biomedical innovation system to reliably and sustainably deliver new, better, affordable therapeutics to the right patients faster.
• The International Society for Quality of Life Research (ISOQOL) is a non-profit society to advance the scientific study of health-related quality of life and other patient-centered outcomes
• ESMO Magnitude of Clinical Benefit Scale - The European Society for Medical Oncology (ESMO) has developed a validated and reproducible scale, the ESMO-MCBS to assess the magnitude of clinical benefit for cancer medicines
• ORPH-VAL is a working group of European rare disease experts comprised of patient representatives, academics, politicians, regulators, payers and industry. The group was formed to improve patient access to orphan medicines through the formation of common principles to underpin P&R processes in Europe. Publication: Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases
• Mechanism of Coordinated Access to orphan medicinal products (MoCA)
• ENCR - European Network of Cancer Registries
• Grey Matters - CADTH: a practical tool for searching health-related grey literature
• IRDiRC - The International rare diseases research consortium
• IRDiRC Orphan Drug Development Guide - The Orphan Drug Development Guidebook (ODDG) is a patient focused guidebook that describes the available tools, incentives, resources and practices specific for developing traditional and innovative drugs/therapies for rare disease indications and how to best use them. It can be used by academic, non-profit organisations, small and larger (innovative) biotechs and patient-driven drug developers. Publication in nature reviews drug discovery (PDF).
• Reagan-Udall Foundation for the FDA - Company Directory - Expanded Access Navigator - Guide for Companies - links to company policy websites, expanded access and compassionate use guidance for companies, contact information for compassionate use requests and expanded access trials listed in Clinicaltrials.gov
• IMPACT HTA is a research project looking at new and improved methods across ten thematic areas aiming at: understanding variations in costs and health outcomes within and across countries, and integrating clinical and economic data from different sources to improve methods in economic evaluation in the context of HTA and health system performance measurement, including orphan drugs
• The Accelerating Therapeutics for Opportunities in Medicine (ATOM) consortium is a public-private partnership with the mission of transforming drug discovery by accelerating the development of more effective therapies for patients. ATOM's goal is to transform drug discovery from a slow, sequential, and high-failure process into a rapid, integrated, and patient-centric model, by integrating high performance computing, diverse biological data, and emerging biotechnologies to create a new pre-competitive platform for drug discovery.
• The National Organisation for Rare Disorders (NORD) Resource Center provides patients and caregivers with free webinars, fact sheets, infographics and other helpful materials to guide you on your journey with a rare disease.
• NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. 
• NORD's IAMRARE™ Registry Program is a cloud-based Natural Histories Patient Registry Platform, with extensive input from FDA, NIH, patients, organizations and experts in the field.
• The Sustainability Index -  shows how futureproof healthcare systems currently are based on five elements that matter the most: Access, Health Status, Innovation, Quality and Resilience"
• ZIPSE - Zentrales Informationsportal über seltene Erkrankungen - patient and caregiver information on rare conditions (German)
• The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. 
• The Global Alliance for Genomics and Health (GA4GH) is a policy-framing and technical standards-setting organization, seeking to enable responsible genomic data sharing within a human rights framework. GA4GH Genomic Data Toolkit - Access and adopt ready-to-use Genomic Data for genomic data sharing
• The Undiagnosed Diseases Network International (UDNI) - undiagnosed diseases are a global health issue, UDNI has built a consensus framework of principles, best practices and governance, and involves centres with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis
• TransCelerate BioPharma’s mission is to collaborate across the global biopharmaceutical research and development community to identify, prioritise, design and facilitate implementation of solutions designed to drive the efficient, effective and high-quality delivery of new medicines.
• The Project Data Sphere platform, a free digital library-laboratory that provides one place where the research community can broadly share, integrate and analyze historical, patient-level data from academic and industry phase III cancer clinical trials.
• ARM - Alliance for Regenerative Medicine - supporting the development of safe and effective regenerative medicines and advanced therapies worldwide - publications and presentations
• ASCGT - American Society of Gene & Cell Therapy - Advancing knowledge, awareness, and education of gene and cell therapy - Gene Therapy 101 - educational resources for patients, advocates and the public
• CTTI - Clinical Trials Transformation Initiative - Mission: To develop and drive adoption of practices that will increase the quality and efficiency of clinical trials - CTTI-developed implementation tools that can improve the quality and efficiency of your clinical trials  - CTTI publications
• c4c (conect4children) is a large collaborative European network that aims to facilitate the development of new drugs and other therapies for the entire paediatric population; it is a pioneering opportunity to build capacity for the implementation of multinational paediatric clinical trials whilst ensuring the needs of babies, children, young people and their families are met
• FoCUS - Financing and Reimbursement of Cures in the US  (MIT NEWDIGS program), Paying for Cures Ensuring patient access and system sustainability - Performance- and value-based arrangements implemented system-wide will make new cures more available to patients and sustainable by everyone
• Global Drug Development & Therapeutic IPO Tracker, Therapeutic IPO Data Visualisation, compiling global market intelligence from 2012 onwards in order to evaluate the historical trends in drug development and commercialisation (Evolution Bioscience)