How biomarkers can support regulatory rare disease pathways

biotech research and development, biomarkers and rare disease

On February 21, the Biotechnology Innovation Organization’s (BIO) soon-to-be President & CEO, John F. Crowley, joined an event about biomarkers and rare disease regulatory pathways, hosted by the Reagan-Udall Foundation for the Food and Drug Administration in Washington, D.C.

The workshop, Qualifying Biomarkers to Support Rare Disease Regulatory Pathways, explored primary disease activity biomarkers in rare genetic diseases. The workshop used heparan sulfate in neuronopathic mucopolysaccharidoses (MPS) as a case study for a biomarker to support accelerated approval. The event brought together the perspectives of FDA representatives, patient advocates, researchers, and industry to discuss the many struggles and opportunities in the rare disease space as a means to build consensus, understanding, and future collaboration.

During the day’s final panel, Crowley provided insights that bridged the space between patient and innovator. As a biotech CEO and father of two children with Pompe disease, Crowley is acutely aware of how delays in the rare disease drug development pipeline affect the children afflicted with these diseases, as well as the parents who are trying to ensure their children have a decent quality of life before it is too late.

“John and the panelists did a great job discussing the value of both the accelerated approval pathway and biomarkers in the development of treatments for rare diseases,” observes Dr. Cartier Esham, BIO’s Chief Scientific Officer and EVP of Emerging Companies. “It also highlighted how each treatment and each rare disease needs to be evaluated on the needs of both scientific understanding and the needs of that specific patient population.”

The state of rare disease R&D

At one point, Crowley asked, where are we in rare disease drug development broadly?

“We’ve come a long way since the Orphan Drug Act, but we’ve got a long, long way to go. And I think we’re finally at this inflection point where we now have the tools of science to offer hope tempered with reality of the challenges of drug development,” he said.

“Now, the challenge is, how do we make sure that we’re achieving the gold standard of safety and efficacy grounded in key science?”

This inflection point was a common theme throughout the event. Yet it was tempered by the specter of uncertainty that comes with an ever-changing investment landscape, coupled with a regulatory system that is constantly trying to figure out how to respond to new drugs and treatments emerging from new science and innovation.

Why are we talking about biomarkers and rare disease?

Biomarkers are becoming more and more of a game-changer when it comes to identifying both the presence (or potential presence) of a disease, as well as an indicator of how a patient may respond to treatment. However, federal and state regulators have not yet figured out how to best respond to them.

Biomarkers can be a tool for regulators and drug developers to use to determine safety and efficacy, explained Crowley. They can also help determine dose or biologic activity.

The workshop’s case study, mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans. These disorders manifest in a number of different debilitating ways, especially in young children. This makes the impetus for drug and biomarker development in that space ever so intense.

“We’re at this inflection point,” said Crowley. “And frankly, I think it’s a crisis in the world of rare diseases where so many programs have been delayed or stopped or threatened to be delayed or stopped. And not because the science doesn’t work—sometimes that’s the case—but the whole ecosystem isn’t working the way it needs to for this next generation of therapies.”

Events such as this one can open communication and collaboration lines and, therefore, help expand development pipelines in the future.

” We could be dooming another generation of children with these diseases of neurodegeneration [if we don’t improve the drug development pipeline and regulatory system soon],” said Crowley. “So how do we then begin to think about what we do? What tools do we bring to bear? What mindset do we bring? Because delay and denial, we know will lead to suffering and death and we all agree that’s not acceptable.”

Scroll to Top