Abstract
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.What is Known:• When planning and conducting clinical trials, sponsors and researchers know that clinical trials are to be performed according to well-established ethical rules, and patients should be aware about their rights.• In the cases of paediatric patients, vulnerable patients unable to provide consent, genetic diseases’ further rules apply.What is New:• This work discusses which ethical rules apply to ensure protection of patient’s rights if all the above-mentioned features coexist.• This work shows available data and information on how these rules have been applied.
Highlights
Inherited NeuroMetabolic Diseases represent a important group of rare diseases being constituted by Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany 8 Neurology, Gastroenterology Pathology and Clinical BiochemistryDepartments, IRP-HSJD and CIBERER, Barcelona, Spain 9 University Hospital Centre Zagreb, Zagreb, Croatia School of Medicine, University of Zagreb, Zagreb, Croatia Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark genetic metabolic disorders that may impact on the brain from birth and during the whole developmental period causing mental retardation and/or different neurological signs and symptoms, may be progressive and may end with irreversible consequences and even in early death [2].Today, as a result of medical research, major progress has been made
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
When planning and conducting clinical trials, sponsors and researchers know that clinical trials are to be performed according to well-established ethical rules, and patients should be aware about their rights
Summary
Departments, IRP-HSJD and CIBERER, Barcelona, Spain 9 University Hospital Centre Zagreb, Zagreb, Croatia School of Medicine, University of Zagreb, Zagreb, Croatia Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark genetic metabolic disorders that may impact on the brain from birth (sometimes already in utero) and during the whole developmental period causing mental retardation and/or different neurological signs and symptoms, may be progressive and may end with irreversible consequences and even in early death [2]. The research based on ‘omics’ technologies, including pharmacogenetics/ pharmacogenomics (PGt/PGx), is producing a very high amount of data. These approaches have been demonstrated to be useful both in pharmacological treatment and in diagnosis. The number of curative interventions remains low and this low number of approved drugs is strictly connected to the difficulties characterising the research in this field that can be summarised as the following
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