Drug development in rare diseases – how to say a lot with a little

There are 7 000 known rare diseases and about 50 percent of them affect children. Due to their very nature, rare diseases are generally poorly understood. Unique challenges that make traditional clinical trials difficult or impossible include low patient numbers, limited understanding of disease pathology and progression, variability in disease symptoms and a lack of established endpoints.

Patients with a rare disease frequently go through a lengthy process before arriving at a diagnosis and their treatment often involves multiple specialties. Study protocols must account for the vulnerability of the patient population and address the multitude of ethical considerations, especially if the patients are children. Despite challenging circumstances, patients with rare diseases and their caregivers are typically well-informed about their condition and generally more engaged with their healthcare providers, ongoing research, national support networks and patient advocacy groups. By identifying the patients’ most critical needs, NDA can reinforce your strategies with the best chances to generate the amount of high-quality evidence needed to accelerate the approval process.

An additional challenge of having a limited number of patients is the scarcity of expertise regarding the rare condition. Collaboration is key in rare disease drug development and as your trusted partner, NDA has the experience to coordinate the available knowledge needed to make fully informed recommendations on what to track in your trial and consider designs that embrace observational real world datasets.

Prepare for uncertainty

Current regulatory standards ensure that patients receive safe and efficacious treatments. However, in recent years regulatory bodies have applied these standards with some flexibility to treatments for rare diseases. This means making decisions on less data and therefore with a greater degree of uncertainty. Securing regulatory approval for the trial designs required in this area requires an exploration of innovation in study design, responsiveness to evolving regulatory guidance, and incorporation of patient perspectives into the scope and detail of the drug development process.

Generating the best possible evidence can be achieved through rigorous planning and early engagement with the regulatory authorities. Your designated point of contact at NDA will assist you in developing a plan with clinically meaningful endpoints taking patient needs into consideration or robust post approval risk management to support your commercialization, bookends needed to reduce uncertainty.

We want to be your partner

As a developer, you have the leading role in bringing medicines to market for patients suffering from rare diseases, transforming their experience from feeling overwhelmed to being in control. By working with NDA, you have a strategic partner with the expertise and experience in rare diseases who shares your passion to address unmet medical needs and will support you through a process which will meet the special demands of these under served patient population.

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