Challenges and Opportunities in Rare Disease Drug Development

Abstract

Each month, Clinical Pharmacology & Therapeutics focuses on a particular theme. Twice a year, the associate editors, editors, and staff get together to discuss journal business and spend time setting up the calendar of themes. Often, there are no experts among us to take on a particular topic that we have chosen. The consequence is that one or two of us take on the theme and then have a crash course to learn as much as they can about it in order to solicit meaningful articles. This month's theme on rare diseases is such a case.

Clinical Pharmacology in Drug Development for Rare Diseases in Neurology: Contributions and Opportunities

“…Bilal Abuasal 1, *, Mariam A. Ahmed 1,2 , Priyank Patel 3 , Salwa Albusaysi 4 , Sreedharan Sabarinath 1 , Ramana Uppoor 1 and Mehul Mehta 1 Several challenges are associated with rare disease drug development in neurology. In this article, we summarize the US Food and Drug Administration's experience with clinical drug development for rare neurological diseases and discuss clinical pharmacology's critical contributions to drug development for rare diseases.…”

“…This situation partly has been due to the challenges associated with drug development in rare diseases. 1 Recognizing these challenges, the US Orphan Drug Act (ODA) was enacted in 1983 to incentivize the development of drugs to treat rare diseases. 2,3 Since the introduction of the ODA, several Acts followed in the United States and worldwide to further spur orphan drug development.…”

“…Historically, the pharmaceutical industry has focused investments in drug development on large target populations; thus “orphaning” individuals with rare diseases and leaving their substantial medical needs unmet. This situation partly has been due to the challenges associated with drug development in rare diseases 1 . Recognizing these challenges, the US Orphan Drug Act (ODA) was enacted in 1983 to incentivize the development of drugs to treat rare diseases 2,3 .…”

Estimating health state utilities associated with a rare disease: familial chylomicronemia syndrome (FCS)

“…In recent years, there has been significant growth in development of medications for treatment of rare diseases [1][2][3][4][5][6][7][8][9] . Economic modeling, including cost-utility analysis (CUA), is often needed to examine the value of these treatments 10 .…”

Clinical Pharmacology & Therapeutics: Past, Present, and Future

“…Building on a platform of key values at the core of clinical pharmacology and therapeutics, CPT has matured into a global forum at the center of diversified communities of practice driving discovery, development, regulation, and utilization of therapeutics, the DDRU continuum, in this evolving time of systems biology and precision therapeutics . Indeed, as in past years, each of our thematic issues in 2016 underscores key advances, or emerging domains, within the field including therapeutic innovations, precision medicine, big data, therapeutic optimization, epigenetics, the microbiome, pregnancy and lactation, thrombosis, immune‐oncology, rare diseases, transporters, and adaptive biomedical innovation …”