The ethical framework for performing research with rare inherited neurometabolic disease patients.

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 th...

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Publicado en:European Journal of Pediatrics Vol. 176; no. 3; pp. 395 - 406
Autores principales: Giannuzzi, Viviana, Devlieger, Hugo, Margari, Lucia, Odlind, Viveca, Ragab, Lamis, Bellettato, Cinzia, D'Avanzo, Francesca, Lampe, Christina, Cassis, Linda, Cortès-Saladelafont, Elisenda, Cazorla, Ángels, Barić, Ivo, Cvitanović-Šojat, Ljerka, Fumić, Ksenija, Dali, Christine, Bartoloni, Franco, Bonifazi, Fedele, Scarpa, Maurizio, Ceci, Adriana, Odlind, Viveca Lena
Formato: research systematic review Journal Article
Publicado: Springer Nature Mar2017
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Mar2017
      vid: 176
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      pub: Springer Nature
      place: New York, New York
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        atl: The ethical framework for performing research with rare inherited neurometabolic disease patients.
      aug:
        au:
          Giannuzzi, Viviana
          Devlieger, Hugo
          Margari, Lucia
          Odlind, Viveca
          Ragab, Lamis
          Bellettato, Cinzia
          D'Avanzo, Francesca
          Lampe, Christina
          Cassis, Linda
          Cortès-Saladelafont, Elisenda
          Cazorla, Ángels
          Barić, Ivo
          Cvitanović-Šojat, Ljerka
          Fumić, Ksenija
          Dali, Christine
          Bartoloni, Franco
          Bonifazi, Fedele
          Scarpa, Maurizio
          Ceci, Adriana
          Odlind, Viveca Lena
        affil: Fondazione Per la Ricerca Farmacologica Gianni Benzi Onlus , Via Abate Eustasio 30 70010 Valenzano Italy
      sug:
        subj:
          Research, Medical Ethical Issues
          Consent Legislation and Jurisprudence
          Nervous System Diseases
          Disease Attributes
          Metabolic Diseases
          Clinical Trials Ethical Issues
          Human
          European Union
          Child
          Europe
          Systematic Review
          Child: 6-12 years
      ab: 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.
      pubtype: Academic Journal
      doctype:
        research
        systematic review
        Journal Article
      ougenre: Article
    language: English
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