Since inherited neurometabolic diseases (iNMDs) are rare diseases affecting a small population of patients, their recruitment in biomedical research, including clinical trials, is getting more and more difficult, due to geographical dispersion and economic, methodological and ethical barriers. To provide a plan to facilitate and encourage research in the field of iNMDs, facilitating the identification of group of patients (target populations) to be involved in future clinical studies and other researches, an inventory of target populations and methodological recommendations on how to conduct clinical research on iNMDs has been developed and finalised by Prof. Adriana Ceci and Dr. Viviana Giannuzzi (Fondazione per la Ricerca Farmacologica Gianni Benzi onlus) in the context of the InNerMeD WP7 (Activities favouring biomedical research). The document also includes ethical recommendations to conduct studies involving iNMD patients with the highest ethical standards. The document addresses researchers (both from companies and research centres), Ethics Committees, patients and families. Importantly these ethical recommendations have been extended to patients affected by other rare diseases as well as non-EU patients.
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