The Importance of Early Diagnosis and Real-World Evidence to Drive Better Patient Outcomes 

Held at the European Parliament, the meeting was produced by the European Alliance for Patient Access in collaboration with the European Federation of Neurological Associations and the European Brain Council. Stakeholders gathered from across Europe to discuss the critical need for improved access to care, services and treatment for people living with rare neurological diseases.

The meeting highlighted several important issues:

• Early Diagnosis: The importance and urgency of early diagnosis continues to be a priority topic in the rare disease community. When patients cannot get a timely and accurate diagnosis, they cannot access approved treatments. They may even be prescribed incorrect medications that worsen the disease progression.

• Cooperation through European Reference Networks: These virtual networks link health care professionals with expertise in rare diseases with others across Europe. The networks have the potential to help increase public and professional awareness of rare diseases as well as the presentations for complex illnesses. Looking towards the future, they might even assist with promoting further research, development and earlier diagnosis for patients.

• Importance of Real-World Data: Real-world data from patients and caregivers can help support timely diagnosis. The data collected can help illustrate the severity of a given disease, what patients need, and how best to establish treatment recommendations.

• Value of the Patient Voice: Input provided by the patient population is important to gaining a full understanding of the patient experience and the best ways for implementing successful treatment plans. Including the patient voice could even generate better patient outcomes in the future.

Unmet needs persist for rare disease patients. 95% of rare diseases are disregarded in terms of research. 50% of patients do not have a confirmed molecular diagnosis and can wait up to several years for a diagnosis even if the disease is known. Initiatives like those discussed during the roundtable, however, can give patients hope for the future.

To learn more about the recent roundtable event, read the full meeting report here.