Moving the Needle for Rare Diseases

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. 

Impacting therapeutic developments

After several years working with another CRO to advance their rare disease efforts, I was given the opportunity to join Covance to support their rare disease and pediatric research team. I am excited to join an established team in rare diseases that have the background and enthusiasm for their work which is critical to developing therapies for rare disease.  Additionally, Covance is committed to forming a unique and differentiated CRO-based rare disease group.

In my role, I have the privilege of leading a dedicated and passionate group of individuals. We are all committed to the goal of improving clinical development from multiple angles, spanning sponsors to the sites, investigators and patients.

The role of a CRO to change rare diseases

At Covance, I can also count on the support of the organization to allow us to change processes, procedures and practices to facilitate achieving our goals. A CRO like Covance is in a unique position with a deep range of experiences to handle difficult situations on a global playing field. From trouble-shooting to course corrections, we understand how to deal with the challenges and setbacks that take place in this difficult field of drug development.

Some may take this experience for granted, but we know how to apply this knowledge in a variety of situations to help our sponsors, sites and patients. Assuring that this valuable knowledge transfer occurs will help build greater efficiencies into the process.

Making patients’ voices heard

As a CRO, I believe our biggest disadvantage is the fact that we do not own the products we are helping to develop. We need the opportunity to engage with the patient communities on an ongoing basis. It is my team’s role, and one they relish, to help ensure the patient’s voice is heard. We must keep the voice of the patient in the top of our minds at every interaction and every level of our project teams.

When sponsors choose us to assist them in developing their products for rare diseases, we proceed with the same level of urgency and engagement. My team and I take pride in being the champions of these projects within our organization. But it is equally important that we are committed to improve our practices each time we support the development of a drug candidate.

Building a Rare Disease Team

My colleagues recently had the opportunity to host a Rare Diseases Scientific Advisory Board in late 2017. With a group of rare disease investigators, patient advocacy groups and sponsors, the messages we heard were clear: we need to build an even better CRO-based Rare Disease Team.

This team needs to be focused and fully dedicated to rare disease clinical research, providing strategic guidance and supporting operational planning and delivery. Our efforts will take advantage of technology-driven solutions, such as laboratory results connected to de-identified patient data, allowing us to better understand the natural history of a disease – and use that knowledge to shape operational planning.

We will also leverage our unique and extensive experience developing companion diagnostics, genomics and genetic counseling along with maternal screening services to provide information to our sponsors that was not previously available for trial planning. Applying our view from the lens of rare disease clinical trials, this strategy will become a matter of course in our organization.

A chance to do more

Collectively, rare disease patients are not very rare. But with a lack of effective therapeutics for most of these diseases, we must work faster for our patients and their families. I know my personal efforts are only a small part of the solution to making a difference for patients. But working together, both in our organization and across multiple stakeholder groups, we can make meaningful improvements for sponsors, sites, investigators and patients.

Learn more about our efforts to improve rare disease studies and advance orphan drugs to market.