ISSN 2490-3329 (Print)
ISSN 2303-7954 (Online)

Volume 49, Issue 1, Article 8

(Scr Med 2018:49:49-56)
REVIEW  ARTICLE

Clinical Trials and the Importance of Biobanks in Rare Diseases

Lana Nežić1, Vesna Vujić-Aleksić1,2, Marina Dukić1, Aleksandra Đeri3

1 Department of Pharmacology, Toxicology and Clinical Pharmacology, Faculty of Medicine, University of Banja Luka, Republic of Srpska, Bosnia and Herzegovina
2 Agency for Accreditation and Healthcare Quality Improvement in Republic of Srpska, Bosnia and Herzegovina
3 Department of Endodontics, Division of Dental Medicine, Faculty of Medicine, University of Banja Luka, Republic of Srpska, Bosnia and Herzegovina


doi: 10.18575/msrs.sm.e.18.08
UDC: 615.2.076:616-056.7
COBISS.RS-ID: 7318040


ABSTRACT

Rare diseases (“orphan diseases”) (RDs) count for 5000-8000 diseases with low prevalence and most commonly of genetic origin. Although most of rare diseases are manifested in early childhood, many are diagnosed in adults, even in elderly. Common characteristics, such as severity, debilitating and life-threatening features, with the lack of a specific drugs, make the treatment of RD a significant public-health problem. Even though randomized controlled trials (RCTs) are the most ideal design for evaluating new drugs, the aim of this review was to present the aggravating circumstances that development of so-called orphan drugs faces in context of RD. We searched the PubMed/Medline for publications on studies and ethics in RDs and applying of „omics“ technologies in analysing tissue samples at biobanks published between 2010 and 2017. In this review, we presented the most significant obstacles in conducting clinical trials in RD as well as main alternative clinical trial designs aiming to decrease the number of patients recruited with increased access to innovative medicines as many as possible. Furthermore, we have presented the possibility of accessing innovative drugs outside of clinical trials as well as ethics violations by the involvement of the subject in clinical trial. Modern technologies in molecular biology will enable the development of „precision medicine“ aimed at identifying the best therapeutic goal, depending on the genetic and epigenetic factors in the affected person. That is why RD biobanks have great significance in the preservation and distribution of tissue samples, in the research of diagnostic biomarkers and the drug development.

Key words: rare diseases, “orphan drugs”, ethics/ethical, biobanks


Pdf version of article


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Contact address:
Lana Nežić
Street address: Save Mrkalja 14
78000 Banja Luka
Republic of Srpska
Bosnia and Herzegovina
e-mail: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
phone number: +387-51-234-101

Submitted: March 2nd, 2018
Accepted: March 11th, 2018