Related Reports

The Scientific Secretariat, as part of its contractual deliverables, identifies reports and recommendations relevant to various aspects of rare diseases research and potentially of interest to the rare diseases research community. These reports are displayed according to broad themes and by date of publication. They should not be considered as documents endorsed or reviewed by IRDiRC, as a whole.

Biobanks

• August 2018, Recommendations for Improving the Quality of Rare
  Disease Registries (International Journal of Environmental Research
  and Public Health)
• April 2015, Biobank Sustainability Recommendations (PCORnet)
• September 2013, Trust in Biobank Research Meaning and Moral Significance (Thesis)
• June 2012, Biobanks for Europe: a Challenge for Governance (European Commission)
• December 2009, OECD Guidelines on Human Biobanks and Genetic Research Databases (OECD)

Clinical Trials

• December 2012, OECD Recommendation on the Governance of Clinical Trials (OECD)

Data sharing

• May 2017, Standard procedure and guide for the coding with Orphacodes (RD-Action)
• March 2014, Data sharing in large research consortia: experiences and recommendations from ENGAGE (European Journal of Human Genetics)

Diagnostics

• October 2016, International Joint Recommendations to Address Specific Needs of Undiagnosed Rare Disease Patients (EURORDIS – Rare Diseases Europe)
• November 2015, Recommendation on Cross Border Genetic Testing of Rare Diseases in the European Union (European Commission)
• April 2014, Guidelines for investigating causality of sequence variants in human disease (Nature)
• September 2013, ACMG clinical laboratory standards for next-generation sequencing (American College of Medical Genetics and Genomics)
• July 2013, ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing (American College of Medical Genetics and Genomics)

Patients in Research

• January 2018, Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases (OJRD)
• February 2015, Methodological guidelines and recommendations for efficient and rational governance of patient registries (PARENT – cross border PAtient REgistries iNiTiative)
• October 2011, Patients’ Priorities and Needs for Rare Disease Research 2014-2020 (EURORDIS – Rare Diseases Europe)

Rare Diseases Research

• September 2014, Implementation report on the Commission communication on rare diseases (European Commission)
• July 2014, The Rare Diseases Clinical Research Network’s Organization and Approach to Observational Research and Health Outcomes Research (Rare Diseases Network Research)
• December 2013, State of the art report on rare diseases (EUCERD)
• June 2013, Rare diseases – How Europe is meeting the challenges (European Commission)
• May 2011, RareDiseasePlatform (RDPlatform): report on rare disease research in Europe (RDPlatform and Orphanet)

Rare Diseases and Society

• November 2018, Recommendations on the Integration of European Reference Networks (ERNs) into National Health Systems (EURORDIS)
• March 2017, Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (OJRD)
• April 2016, Recommendations to Support the Incorporation of Rare Diseases into Social Services and Policies (European Commission)

Therapies, Medicines Approval and Access

• October 2018, Guideline on good pharmacovigilance practices (GVP) (EMA)
• July 2018, Clarification of Orphan Designation of Drugs and Biologics for Pediatric Subpopulations of Common Diseases (FDA)
• May 2018, Enhanced early dialogue to facilitate accelerated assessment of PRIority Medicines (PRIME) (EMA)
• May 2018, European Medicines Agency Guidance on interactions in the context of PRIME (EMA)
• April 2018, Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS) – Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases (FDA)
• August 2016, Guidance for companies considering the adaptive pathways approach (EMA)
• July 2016, Final report on the adaptive pathways pilot (EMA)
• June 2016, Advanced therapy medicines: exploring solutions to foster development and expand patient access in Europe (EMA)
• March 2016, Report on the implementation of the EMA-EUnetHTA three-year work plan 2012-2015 (EMA)
• March 2016, Report of the pilot on parallel regulatory-health technology assessment scientific advice (EMA)
• March 2016, European Medicines Agency Guidance for applicants seeking access to PRIME scheme (EMA)
• February 2016, Inventory of Union and Member State incentives to support research into, and the development and availability of, orphan medicinal products (European Commission)
• September 2015, Guideline on key aspects for the use of pharmacogenomics in the pharmacovigilance of medicinal products (EMA)
• July 2014, Complex Issues in Developing Drugs and Biological Products for Rare Diseases and Accelerating the Development of Therapies for Pediatric Rare Diseases (FDA)
• December 2011, Guideline on the use of pharmacogenetic methodologies in the pharmacokinetic evaluation of medicinal products (EMA)
• October 2010, Rare Diseases and Orphan Products: Accelerating Research and Development (NIH)