Accelerating Innovation in Rare Disease Treatments: The Need for Collaboration

Srini Ramanathan, PhD

Thirty million people in the United States are living with a rare disease and less than five percent of existing rare diseases have an approved treatment option. At Horizon Pharma, we are driven by a personal commitment to our patients to collaborate and innovate to close the innovation gap in rare disease.

Conversations such as Research!America’s National Health Research Forum, which discussed the challenge of unmet medical needs, are vital in highlighting areas where cross-sector collaboration will enable us to find treatment options faster. Sitting alongside my fellow panelists, it was clear that while the challenges of unmet needs persist, our shared commitment will drive forward new solutions.

To give perspective to the challenge of developing medicines for rare diseases, we need to put the nature of these diseases into context. Imagine attempting to solve a puzzle with several thousand pieces – but each time you make progress, hundreds more pieces are added. This hypothetical puzzle is akin to drug development for rare diseases. There are over 7,000 rare diseases, with around 250 new ones being identified each year. But this doesn’t have to be a puzzle solved individually.

We are all working to solve problems that matter to patients. By collaborating with patients and their advocacy organizations, as well as with the medical community, we can synthesize the right data and determine, for instance, what biomarkers and endpoints are logical and acceptable for patients and functional within clinical trials. At the heart of such partnerships is creating large-scale registries of patient data and natural history of diseases. The FDA has committed $20 million to developing natural history registries – but this takes effort from all of us – the biopharmaceutical industry, patients and their advocacy organizations, along with government regulators.

One such example is The North American Pediatric Renal Trials and Collaborative Studies’ (NAPRTCS) newly launched longitudinal natural history registry created in partnership between NAPRTCS, leading physicians in the cystinosis community, and Horizon Pharma. The registry will collect and organize physician-reported data that will help healthcare professionals better understand the natural history of cystinosis.  Data collected will also be available to researchers exploring new potential treatments for cystinosis.

These natural history registries bring immeasurable value by increasing researchers’ understanding of disease impact, and by bringing together data among small and disperse groups. Registries also help shape measures of efficacy and facilitate clinical trial enrollment.

At Horizon, we approach development with the belief that “all of us are better than any one of us.” The need for collaboration is an urgent one if we are to accelerate innovation of new medicines for those living with rare diseases.


Srini Ramanathan is Vice President of Development Sciences at Horizon Pharma.  



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