Clinical Pharmacology – Biomolecular
Mohamed Hassanein, PhD
Associate Director
Pfizer
Shazia Baig, PhD (she/her/hers)
Scientist II
BioAgilytix
Boston, Massachusetts
Rare diseases are a diverse collection of about 8000 conditions most of which have genetic underlining. Rare diseases impact less than 200,000 in the USA and 5 in 10,000 in Europe. Despite the low prevalence of each disease in specific geographical location, more than 400 million patients are impacted from these rare “orphan” diseases worldwide. With only about 5% of approved treatments, rare diseases represent a significant unmet clinical need. The rarity of each disease poses unique set of challenges for the development of novel therapeutics. These challenges include selecting the right study population, defining appropriate clinical endpoints, phenotypic heterogeneity, incomplete knowledge of genotype-phenotype relationship, variability of the disease severity, and inadequate understanding of the disease pathophysiology. The advent of gene therapies has brought a renewed hope of curing some of these rare diseases. Recent technological advances in analytical platforms led to the identification of novel biomarkers that can expedite the drug development process of these rare diseases. This presentation will highlight some recent examples of how biomarkers can help overcome some of the challenges facing the implementation of gene therapies in rare diseases and guide the design of clinical trials.