RARE Daily

Nurturing a Culture for Translational Science

December 18, 2019

At the heart of rare disease is the notion of how unique a condition is. Rarity, at its essence, is about prevalence.

Though scientific advances and the emergence of new therapeutic modalities are providing hope for the development of treatments to address the large number of rare diseases, the reality is that only about 5 percent of the estimated 7,000 conditions have an approved treatment.

In a new paper in Nature Reviews Drug Discovery, Erik Tambuyzer of BioPontis Alliance for Rare Diseases Foundation and his co-authors explore the therapeutic landscape today, the translational gap, and offer some thoughts on how to address it.

The paper provides a great introduction for rare disease advocates who want to think about drug development strategies as it walks through different therapeutic modalities in an accessible way, discusses their clinical success, and explains their strengths and limitations as an approach for rare diseases.

It also provides an introduction to drug and target repurposing, as well as regulatory pathways for orphan product development. It is an excellent resource that could help a rare disease advocate get a basic understanding on the therapeutic landscape and help them begin thinking about therapeutic strategies, or at least engage in a discussion with researchers or drug developers.

But beyond the primer, it does make an argument that rare diseases collectively don’t get the attention they deserve and offers a call to action for the rare disease community. “The numbers of rare diseases and those affected by them indicate that this heterogeneous group of disorders deserves to be a higher public health priority, not by individual disease or disease group, but altogether,” the authors write. “While various initiatives have already been set up at the country and international levels, all stakeholders in the rare diseases community need to collaborate to bridge the large gap between basic research and therapy development in the field of rare diseases.”

They argue that a high percent of high-quality rare disease research ends without reaching the clinical stage and never even gets to preclinical development. Within rare disease drug development, they also note that about a third of the indications are for rare cancers. This, they say, leaves a major translational gap for rare diseases outside of oncology.

One solution they advocate is the use of standard technology platforms and the use of evaluation mechanisms for the readiness of research programs. They also suggest that funders pair their money with advice for patient groups on how to convert research into therapeutic development by ensuring appropriate standards that will de-risk early research and improve the likelihood of engaging industry.

But critical to what they see as the solution for changing the landscape for translational research is for rare disease advocates to think a little less about what makes the condition they are concerned about so unique and instead look for commonalities with other rare diseases.

“A shift in priorities that could be valuable is to move from focusing on what is different about particular rare diseases or their allelic variants to what is common among them—even across disorders with very different phenotypic presentation,” they write. “This would potentially allow more sustainable and more rapid progress in the translation process to therapies, ideally with multiple disorders treated with the same or a very similar drug.”

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