Reports on rare disease research 

The International Charter of principles for sharing bio-specimens and data

International_Charter_biospecimen_data_sharing“Contradictory legal and ethical frameworks across national borders are obstacles to effective data sharing. The Charter intends to provide the ethical foundations on which data sharing should be based and a general Material and Data Transfer Agreement (MTA/DTA). The Charter provides tools that may help accelerate sharing and is forward looking in terms of emerging issues from the perspective of a multi-stakeholder group.”

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The Rare Diseases Clinical Research Network’s organization
and approach to observational research and health outcomes

RDCRN“The purpose of this paper is to describe the organization and structure of the RDCRN, its accomplishments, and the opportunities and challenges it faces as it enters its second decade. Among its goals are the training of new investigators in rare diseases research and improving access to information related to rare diseases for basic and clinical researchers, academic and practicing physicians, patients, and the lay public.”

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European Commission: implementation report on the Commission communication on rare diseases

rapport EC “This report presents an overview of the implementation of the rare diseases strategy to date and takes stock of achievements and lessons learned. It seeks to draw conclusions on the extent to which the measures foreseen in the Commission Communication and the Council Recommendation have been put in place and the need for further action to improve the lives of patients affected by rare diseases and their families.”

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FDA: complex issues in developing drugs and biological
products for rare diseases and accelerating the
development of therapies for pediatric rare diseases

FDA report“Over the past few decades, a number of legislative actions have been taken to encourage the development of therapies to treat people affected by rare diseases and to encourage therapies for pediatric patients. During this same time period, the Food and Drug Administration (FDA) has invested substantial effort in support of these same goals. As described in this report, recent legislative actions have prompted new initiatives.”

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EUCERD: state of the art report on rare diseases

EUCERD2014“The state of the art reports published each year since 2010, by EUCERD (European Union Committee of Experts on Rare Diseases) aim to provide an informative and descriptive overview of rare disease activities at European Union (EU) and Member State (MS) level in the field of rare diseases and orphan medicinal products.”

Read the latest edition of the EUCERD state of the art report

Rare diseases – How Europe is meeting the challenges

RD cover“This booklet focuses on a group of diseases that are called ‘rare’ but actually affect over 30 million Europeans. Patients suffering from one of the estimated six to eight thousand rare diseases are few and far between, so pooling knowledge and scarce resources is the best way to find out how we can diagnose, treat or cure them. Rare diseases are a challenge too big for any country or world region to master alone. This is why the European Commission, together with our national and international partners, initiated the International Rare Diseases Research Consortium (IRDiRC).”

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RareDiseasePlatform (RDPlatform): report on rare disease research in Europe

report on rd

“The report of the RD Platform project, a support action project of the EU’s Seventh Framework Program, highlights the state of the art of research and development in Europe in the field of rare diseases, the initiatives and incentives that have already been foreseen, the policy decisions that have supported these evolutions, the lessons learned from European policy and experience in regards to the rest of the world, and proposes areas for action in the future.”

Consult the latest report of the RD Platform project

The US National Institutes of Health: report on research and development in rare diseases and orphan products

coverRD and orphan products“The NIH report calls for implementing an integrated national strategy to promote rare diseases research and product development and for a comprehensive action plan for rare diseases research that covers all institutes and centers and that defines and integrates goals and strategies. This plan should cover program planning, grant review, training, and coordination of all phases of research.”

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 Methodological guidelines and recommendations for efficient and rational governance of patient registries

Parent report
“This publication has arisen from the Cross-border Patient Registries Initiative, presenting guidelines that were created to provide practical and ‘hands on’ advice to set up and manage patient registries as well as to enable secondary use of data for public health policy and research. They are a first step towards greater interoperability of patient registries, however, a number of exciting and complex challenges still lies ahead, requiring continuous efforts to ensure that the full value of patient registries is used.”
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Reports on biobanks

Current trends in biobanking for rare diseases: a review

Current_trends_biobanking_Graham“Due to the nature of rare diseases (RD), international cooperation is critical for sharing limited numbers of RD samples and achieving a critical mass. the authors review the current and future direction of RD biobanks and discuss research and development stemming from the use of biospecimens to improve management of RD.”

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Biobanks for Europe: a challenge for governance

biobank“Biobanks collect biological samples and associated data for medical-scientific research and diagnostic purposes and organize these in a systematic way for use by others. […] As an action under the 2011 Science in Society Work Program of the Seventh Framework Program (FP7), an interdisciplinary expert group was established to reflect on the ethical and regulatory challenges of international biobank research, and to identify options for addressing these challenges.”

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Trust in biobank research: meaning and moral significance

trust in biobank“What role should trust have in biobank research? Is it a scarce resource to be cultivated, or does its moral significance lie elsewhere? How does it relate to the researcher’s individual responsibility?”

Consult this thesis



Reports on patient’s priorities and needs

EURORDIS: position paper on patients’ priorities and needs for rare disease research

patient's priorities“The paper outlines the priorities for rare disease research that EURORDIS (European Organization for Rare Diseases), has identified for the decade ahead. It presents an overall strategy based on WHAT are the research priorities by area and HOW to achieve them.”

Read the full report