Rare Disease Therapy Development: Finding a Way Forward

Gaining access to lifesaving or even life-altering treatments has never been easy for many rare disease patients — including those with Batten disease. But the landscape is changing.

What felt like a slow crawl in my sister’s lifetime (Taylor was diagnosed with CLN1 disease in 2006) is now, if not an all-out sprint, at least approaching a brisk jog. As co-founder and vice president of the public charity Taylor’s Tale, I’ve had a front-row seat for much of the race, helping to select and fund promising research from enzyme replacement therapy and small molecule medication therapy to, more recently, gene therapy.

I talked to Vivian Fernandez, senior director of patient advocacy at REGENXBIO Inc., about the dynamics of rare disease therapy development and how companies like REGENXBIO, a global leader in gene therapy, approach it. Fernandez has intimate experience with the Batten disease community: She worked at BioMarin when the company developed Brineura (cerliponase alfa), its enzyme replacement therapy for CLN2 disease.

Does the fight against rare disease have a secret weapon?

“There are many more companies invested in rare today,” Fernandez said. “There are more products in development. The families and patient organizations are a big part of that: Taylor’s Tale. Noah’s Hope. Drew’s Hope. BDSRA. They’ve been so vocal and involved, they’ve really helped move the needle, to advance research.”

“Think about the HIV movement,” she said. “It was really incredible. Those patients helped change the course of drug development by engaging the public. The breast cancer community, and many rare communities, have played a similar role.”

Are these treatments only about rare disease?

Patients and families fighting an ultra-rare disease, such as Batten disease, aren’t alone in their potential to benefit from the explosion of science and commitment driving treatment development today. Fernandez stressed the value of data collected from rare disease research studies and clinical trials as a role model and an engine for therapies to address common disorders. Gene therapy, in particular, could hold promise not only in rare disorders but also for more common conditions like Alzheimer’s disease, Parkinson’s disease, and others.

That kind of cross-pollination is already clear within the rare disease world. The gene therapy for CLN1 disease that Taylor’s Tale helped spearhead grew out of a treatment for giant axonal neuropathy — they were developed in the same lab. Fernandez also noted increased collaboration within the field of lysosomal storage diseases — experts in related disorders are talking to each other, sharing ideas, and connecting the dots.

Will the COVID-19 pandemic alter the course for rare disease research?

I talked to Fernandez in mid-April, a few weeks prior to the projected peak of the COVID-19 pandemic across much of the United States. So, I couldn’t help but ask: How will the coronavirus alter the trajectory of rare disease treatment development?

“What’s struck me about all of it is the sense of urgency,” Fernandez said. “We’re all working together and moving quickly because we don’t have the luxury of time. People are dying. You know, that’s exactly what the rare disease community has always done. We’ve always lived with a sense of urgency.”

The FDA, in an effort to combat the coronavirus, is building new flexibility into the therapy development and approval process — something rare disease patients have always craved. Moving forward, it will be interesting to observe if that additional flexibility will alleviate some of the challenges inherent in developing orphan disease treatments.

Do clinical-stage companies have a responsibility to serve patients?

In my February column for Batten Disease News, I challenged all clinical-stage companies (and one in particular) to finish the race they signed up to run. But what about situations where, for whatever reason, the company lacks a strong business case or potential for acceptable profit margins?

“It would be easy to say this is just too hard, but that’s not the right mindset,” Fernandez said. “The patient always has to be at the center of development — especially in rare diseases.”

I don’t have Vivian’s professional background — at the end of the day, I’m simply a vocal patient advocate — but in my role at Taylor’s Tale, I’ve had the privilege of working with some of the real rock stars in rare disease therapy development. Science wasn’t able to save my sister, but I still hold a certain level of awe for the research labs and clinical-stage companies whose work is so critical to patients and families. I’ve always thought of this era in the history of rare disease as a dash toward the first of many finish lines.

So, in a race to save lives, what’s a winning strategy today? For that, Fernandez left me with one piece of advice.

“You have to find a way forward.”

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