Some 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 — are virtually unknown except to the friends and family of those living with the disease. Collectively, there are 7,000 distinct rare diseases, which, according to the advocacy group Global Genes, affect up to 400 million people globally. About half of those diagnosed with a rare disease are children.Continue reading
Each year, we designate the last day in February as Rare Disease Day to raise awareness about the potential impact we can make for this important segment of the world’s population. From policy makers to researchers to health authorities, we all play a part in making a difference for more than an estimated 300 million people in the world suffering from a rare disease.
To mark the event, I would like to reflect on my role to move the needle and make a difference to patients that are awaiting life-changing treatment. My journey started as a clinician where I had the privilege in caring for patients with a variety of rare diseases. At a personal level, I am also the aunt of a very special boy who suffered for 8 years with a rare cardiopulmonary disease. To me, rare diseases are not so rare. Continue reading
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 reimbursement.
Leading manufacturers increasingly employ stakeholder research early in development to better identify the needs of patients and providers. This strategy can build in compelling asset value during development, help avoid pitfalls and better inform go/no-go decisions earlier to avoid costly development delays or even dead-ends. Continue reading
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 and reaching regulatory approval does not necessarily translate to market success.
John D. McDermott, Jr., Vice President of Covance Market Access Services, recently shared his insights on the market access challenges in rare disease drug development and discussed key considerations for sponsors and stakeholders.
Provide early education about the disease
Even though rare diseases as a whole are getting more attention, sponsors cannot assume that their potential payers know much about the particular condition they are targeting and its importance to patients. Continue reading
Rare diseases affect more than 350 million people worldwide but patients often face limited options for approved therapies. As a result, many patients have joined advocacy groups first and foremost to connect with others struggling with their rare disease, but also to promote research, unite multiple stakeholders and stimulate new possibilities in the therapeutic pipeline. Research and orphan drug development efforts are starting to follow suit by increasingly incorporating patients’ needs and examining potential outcomes.
Addressing clinical challenges in rare disease and orphan drug development
With government-driven financial incentives, advances in genomic technology to identify promising targets for drug development, increasingly organized patient communities, and above average regulatory approval rates, drug developers are motivated to address rare diseases. While these trends are promising for patients with urgent unmet medical needs, orphan drug development still faces many challenges. The very nature of rare disease places pressure on identifying and accessing a sufficient number of patients for clinical trials.
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 patient input into early development, especially when working with promising novel treatments in rare disease studies.