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The ethical framework for performing research with rare inherited neurometabolic disease patients
Fdn Ric Farmacol Gianni Benzi Onlus, Via Abate Eustasio 30, I-70010 Valenzano, BA, Italy..
Univ Leuven, Dept Dev & Regenerat, O&N 4 Herestr 49 Box 805, B-3000 Leuven, Belgium..
Aldo Moro Univ Bari, Dept Basic Med Sci Neurosci & Sense Organs, Piazza Giulio Cesare 11, I-70124 Bari, Italy..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology.
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2017 (English)In: European Journal of Pediatrics, ISSN 0340-6199, E-ISSN 1432-1076, Vol. 176, no 3, p. 395-405Article in journal (Refereed) Published
Abstract [en]

The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues. Three searches have been performed on the European regulatory/legal framework, the literature and European Union-funded projects. The European legal framework offers a number of ethical provisions ruling the clinical research on paediatric, rare, inherited diseases with neurological symptoms. In the literature, relevant publications deal with informed consent, newborn genetic screenings, gene therapy and rights/interests of research participants. Additional information raised from European projects on sharing patients' data from different countries, the need to fill the gap of the regulatory framework and to improve information to stakeholders and patients/families. Conclusion: Several recommendations and guidelines on ethical aspects are applicable to the inherited neurometabolic disease research in Europe, even though they suffer from the lack of a common ethical approach.

Place, publisher, year, edition, pages
SPRINGER , 2017. Vol. 176, no 3, p. 395-405
Keywords [en]
Paediatric, Rare, Genetic disease, Clinical research, Ethics
National Category
Pediatrics
Identifiers
URN: urn:nbn:se:uu:diva-320839DOI: 10.1007/s00431-017-2852-9ISI: 000394978600013PubMedID: 28093642OAI: oai:DiVA.org:uu-320839DiVA, id: diva2:1091395
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EU, European Research Council, 2012 12 12Available from: 2017-04-26 Created: 2017-04-26 Last updated: 2017-04-26Bibliographically approved

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