Abstract
Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of neuromuscular disorders where the possibility of genetic, mutation-specific treatments, has added new complexity. Not only must trial design address issues of equity of access, but researchers must also think through the implications of adopting a personalised medicine approach, which requires a precise molecular diagnosis, in addition to other implications of developing orphan drugs. It is against this background of change and complexity that the Project Ethics Council (PEC) was established within the TREAT-NMD EU Network of Excellence. The PEC is a high level advisory group that draws upon the expertise of its interdisciplinary membership which includes clinicians, lawyers, scientists, parents, representatives of patient organisations, social scientists and ethicists. In this paper we describe the establishment and terms of reference of the PEC, give an indication of the range and depth of its work and provide some analysis of the kinds of complex questions encountered. The paper describes how the PEC has responded to substantive ethical issues raised within the TREAT-NMD consortium and how it has provided a wider resource for any concerned parent, patient, or clinician to ask a question of ethical concern. Issues raised range from science related ethical issues, issues related to hereditary neuromuscular diseases and the new therapeutic approaches and questions concerning patients rights in the context of patient registries and bio-banks. We conclude by recommending the PEC as a model for similar research contexts in rare diseases.
Highlights
In EU countries a rare disease (RD) is any disease affecting fewer than 5 people in 10,000 12 which translates to approximately 425,000 people throughout the EU’s 27 member countries
Of the 7,000 rare diseases collected in the Online Mendelian Inheritance in Man (OMIM) database only 3,000 genes are known, despite the fact that medical genetics has clearly shown that a prerequisite to approaching diagnosis and cure for a RD is to identify the causative mutated gene
As joint effort will maximise the success and reduce the cost of developing therapies for RDs, it is crucial to co-operate within a national and supranational context and this has been recognised via the formation of a novel, co-operative initiative by the EU, Canada and the USA, the International Rare Diseases Research Consortium (IRDiRC) (IRDiRC, http://ec.europa.eu/research/health/medical-research/rarediseases/irdirc_en.html)
Summary
In EU countries a rare disease (RD) is any disease affecting fewer than 5 people in 10,000 12 which translates to approximately 425,000 people throughout the EU’s 27 member countries. (www.eucerd.eu and Orphanet database www.orpha.net). Some of those who raised this concern with the PEC asked whether the TREAT-NMD network could bring some leverage to bear on pharma who were seeking to access TREAT-NMD’s Global Patient Registry with an intention of running a clinical trial While such stringent measures have strong moral support the PEC reflected that there was a risk that applying pressure on pharma might be counter productive and that much more could be gained by fostering a collegiate and collaborative approach between stakeholders, with clear voluntary agreements to conform to the required ethical standards, as other organisations have done (see Eurordis, www.eurordis.org), without first resort to mandatory formal agreements. Consent – any collation and use of patient data should be premised upon the provision of high quality information either directly to the patient/family or to the registry ‘owner’ e.g. Patient organisation
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