Rare diseases are not so rare

Some rare diseases have famous fundraising events attached to them, like the Ice Bucket Challenge for ALS or the many walks, runs, and telethons for diseases ranging from cystic fibrosis to muscular dystrophy. Other conditions, like Wilson’s Disease, a rare condition in which excess copper builds up in the body, …

Rare Disease Drug Development

The Importance of Stakeholder Research in Rare Disease Drug Development

The approval of novel orphan drug designations continues to grow, while many existing rare disease therapies are receiving approval for expanded indications. With this increase and broadening class of products, including some that target the same mutation or molecular defect, sponsors face new and significant market access challenges in securing …

Advancing Rare Disease Drug Development: Four Key Considerations for Market Access

Our industry is witnessing increasing growth in the rare disease market, thanks to financial and regulatory incentives to develop orphan drugs. This has been good news for both sponsors and patients, but the fact remains that rare disease trials are inherently challenging to run. In addition, completing a complex study …

Covance Employees in Lab Rare Disease

The Evolution of Open-Label Extensions and Rare Disease Studies

When running early development studies, sponsors must consider whether or not to provide open-label, long-term treatment at the end of their randomized, placebo-controlled trial. In the past, sponsors have been hesitant to offer open-label extensions. But with our industry’s increasing focus on patient-centric care, sponsors are now weighing their options to incorporate more …

Making Sense of Antisense Oligonucleotide-Based Therapies in Muscular Dystrophies

Good news for the Duchenne Muscular Dystrophy (DMD) community. On June 8th, BioMarin announced the filing of a Marketing Authorization Application to the European Medicines Agency for Drisapersen, an antisense-mediated exon 51-skipping compound able to target the most prevalent genetic mutations responsible for the lack of production of functional dystrophin. …