Biomarkers in Rare Diseases 2.0
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 60614
Special Issue Editor
Interests: MNGIE; EE-TP; rare diseases; cell therapies
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
The definition of a rare disease in the European Union is a disease that affects fewer than 1 in 2000 individuals within the general population. There are over 7000 known rare diseases, and new conditions are regularly reported in the literature. However, for most of these conditions, there are no specific therapies whose effectiveness has been evidenced in clinical trial studies.
Clinical trials of investigational therapies require validated endpoint measures to assess the way a patient feels, functions, or survives and, subsequently, the efficacy of treatment. Designing clinical trials for rare diseases presents considerable challenges due to small patient populations, phenotypic heterogeneity, incomplete knowledge of the disease pathophysiology or natural history, and an absence of prior clinical studies. Consequently, the selection of clinical trial endpoints can be an arduous process, particularly as validated endpoints appropriate for the disease are often unavailable.
Distinct biomarkers are often detected in rare diseases, and these have the potential to provide an invaluable tool for monitoring disease progression, prognosis, and response to drug treatment and to ultimately accelerate the discovery of therapeutics for rare diseases. To expedite the development of drugs for rare disorders, regulatory agencies have endorsed the need for flexibility in the review process and may consider approving a therapy based on a surrogate endpoint or biomarker, as these may provide a better predictor of treatment efficacy compared with approved clinical endpoints employed for more common disorders.
For this Special Issue titled “Biomarkers in Rare Diseases 2.0”, we continue looking for original research articles and state-of-the-art reviews on novel or established proteomic, metabolomic, or transcriptomic biomarkers that contribute to the understanding of the underlying molecular mechanisms of rare diseases and/or that can be used for the diagnosis and prognosis of disease and individuals’ responses to therapies.
Dr. Bridget E. Bax
Guest Editor
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Keywords
- Orphan diseases
- Rare diseases
- Inborn errors of metabolism
- Mitochondrial disorders
- Biomarker discovery
- Biomarker panels
- Multiomics
- Endpoint measures
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Related Special Issues
- Biomarkers in Rare Diseases in International Journal of Molecular Sciences (16 articles)
- Biomarkers in Rare Diseases 3.0 in International Journal of Molecular Sciences (5 articles)