Very rare diseases carry unique challenges for drug development.

Often, little is known about the disease itself, making it difficult to identify targets and design clinical trials, and there are fewer patients to enroll in those trials.

Healthcare providers often need education about the disease and about treatment options. Patients and their families may need help coordinating their care from multiple specialists, finding physicians familiar with their condition, proper disease management and treatment options, or navigating their medical insurance. For patients with the rarest conditions, it can be hard to locate other families who know what they’re going through and can provide support.

There are a number of ways that people affected by rare diseases can benefit from collaborations with academic researchers, advocacy organizations, and with companies who are developing treatments. At the same time, really listening to patients and advocates is critical for a company to develop treatments that can meet

patients’ needs.

One way to foster this type of collaboration is for a company to have a dedicated Patient Advocacy function. “A dedicated advocacy function helps ensure that the patient perspective is included in decision making while maintaining open lines of communication between the company and patient groups,” explains Jamie Manganello Ring, Senior Director of Patient Advocacy at Genzyme, a Sanofi Company.

Patient organizations and advocacy groups can have an enormous impact on access to treatments. “When we were developing a treatment for Pompe disease, it was very difficult to identify and enroll patients,” says Ring. Patient organizations helped find patients and get them enrolled into the trial quickly. Families had also helped design trials that would be feasible for families to participate in and aided in critical communications.

“We couldn’t have completed the pivotal trial that supported approval without the collaboration of patient organizations all over the world.”

In the end, drug companies, patient organizations, families, and advocacy groups all share the same goal: to ensure the best health outcomes and best treatment possible to patients with rare diseases. And companies need to do everything they can to foster open relationships with the community.