Rare diseases research and human tissue engineered products - Page updated

Rare diseases research and human tissue engineered products - Page updated

European Community Framework Programme (FP7)

The seventh framework programme is composed of four main elements - Cooperation, Ideas, People and Capacities - alongside cross-cutting issues such as support for SMEs, international cooperation, the contribution of research to EU policy, and the inclusion of societal considerations.

Rare-disease research features under the heading of health, one of nine themes under 'Cooperation'. The Cooperation programme is designed to gain leadership in key scientific and technological areas by supporting cooperation between universities, industry, research centres and public authorities across the EU and the rest of the world. The focus for rare-disease research in FP7 will be on pan-European studies of natural history, pathophysiology, and the development of preventive, diagnostic and therapeutic interventions. This sector will include rare Mendelian phenotypes of common diseases.

See:

• Proposal for a Specific Programme Cooperation implementing the Seventh Framework Programme (2007-2013) of the European Community for research, technological development and demonstration activities.
• Research on rare diseases under the European Union Framework Programme for Research and Technological Development
• The International Rare Disease Research Consortium (IRDiRC) was launched in April 2011 to foster international collaboration in rare diseases research. The European Commission and the US National Institutes of Health initiated the discussions, and other stakeholders, including other funding agencies, have also been invited to join the consortium. IRDiRC will team up researchers and funding agencies in order to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and diagnostic tools for most rare diseases. Related challenges identified include the need to establish and provide access to harmonised data and samples, perform the molecular and clinical characterisation of rare diseases, boost translational, preclinical and clinical research, and streamline ethical and regulatory procedures.

See web site of International Rare Disease Research Consortium (IRDiRC)

European Community Framework Programme (FP6)

The previous Sixth Framework Programme (FP6) (2002-2006) for Research, Technological Development and Demonstration Activities had seven thematic priorities, one of which supported projects on 'life sciences, genomics and biotechnology for health'.

This thematic priority aimed to stimulate and sustain multidisciplinary basic research to exploit the full potential of genome information to underpin applications to human health. In the field of applications, the emphasis was put on research aimed at bringing basic knowledge through to the application stage, to permit real, consistent and coordinated medical progress at European level and to improve the quality of life. This priority was twofold, one of the aspects being the fight against major diseases, including:

• cardiovascular diseases, diabetes and rare diseases: to improve the prevention and management of important causes of mortality and ill health in Europe and to pool Europe's research resources for tackling rare diseases;
• resistance to antibiotics and other medicinal products;
• brain studies and efforts to combat nervous system diseases;
• studies on human development and the ageing process.

An FP6-supported ERA-NET project was dedicated to rare diseases (E-Rare) for the development of joint and trans-national activities (survey on national programmes, identification of gaps and overlaps among national research programs and activities on RD).

E-Rare aimed to set up sustained cooperation between partners, to coordinate national research programmes in order to overcome the fragmentation of research and promote interdisciplinary approaches, to harmonize and develop synergies among the national and/or regional research programs of the participating countries, to develop common research policy on RD and to sustain a competitive position with regard to research on RD in North America and Asia.

See:

E-Rare (ERA-Net for research programs on rare diseases)

Research projects on rare diseases

European Community Framework Programme (FP5)

The European Community Framework Programme (FP5) (1998-2002) on research was divided in four focused thematic programmes and three wide-ranging horizontal programmes.

The thematic programme 'Improving the quality of life and management of living resources' focused on funding fundamental and clinical research in rare diseases.

Support was provided for multinational research into rare diseases, applying advances in modern technology to diagnosis, treatment, prevention and surveillance through epidemiology. Forty-five projects were funded for about 62 million euros.

See:

Cordis Community-funded projects in the field of rare diseases research 1998-2002

Human tissue engineered products

Human tissue engineering combines various aspects of medicine, cell and molecular biology, materials science and engineering, for the purpose of regenerating, repairing or replacing diseased tissues.

These advanced therapies (gene therapy, cell therapy and tissue engineering) hold great promise for improved treatment opportunities for patients with rare disorders. However, advanced therapies are based on complex and new manufacturing processes, the expertise for evaluation of such products is scarce, and aspects such as long-term follow-up of patients and risk management strategies for the post authorisation phase are crucial.

Creation of an EU regulation is a way of addressing these complex factors. The Regulation (EC) No 1394/2007 was designed to ensure the free movement of advanced therapy products within Europe, to facilitate access to the EU market and to foster the competitiveness of European companies, while guaranteeing the highest level of health protection for patients.

More information on advanced therapies

The Committee for Advanced Therapies (CAT)

The European Medicines Agency (EMA) established the Committee for Advanced Therapies (CAT) in accordance with Regulation (EC) No 1394/2007 on advanced-therapy medicinal products.

The main responsibility of the CAT is to prepare a draft opinion on each advanced-therapy medicinal product (ATMP) application submitted to the European Medicines Agency, before the Committee for Medicinal Products for Human Use (CHMP) adopts a final opinion on the granting, variation, suspension or revocation of a marketing authorisation for the medicine concerned.

Learn more about the CAT

Adequate definition, codification and inventorying of rare diseases

• inventory of rare diseases

Cooperation between rare diseases organisations

• strengthens collaboration at European level among patient organisations
• develops partnerships among alliances
• increases the visibility and operational capacity of rare-disease organisations and networks

Action for rare diseases

• help existing European rare-disease networks share information more easily
• promote better classification
• develop strategies and mechanisms for exchanging information between rare-disease victims, volunteers and professionals
• define relevant health indicators
• develop comparable epidemiological data at EU level
• support the exchange of best practise
• develop measures for patient groups

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