Rare disease families find roadmap to drug development at bootcamps

Developing a new drug can cost a billion dollars and take more than a decade. This makes investing in new treatments in the rare disease field a risky bet for big pharmaceutical companies, where the patient population is small and the chance of a return on that investment is even smaller.

This is a big reason why 95% of the more than 10,000 existing rare diseases do not have an FDA-approved treatment.

But for parents of children with these diseases, doing nothing is not an option. This is fueling a major trend in the rare disease community: medical innovations and breakthroughs driven by patient groups themselves.

Last October, Rare As One — a project funded by Chan Zuckerberg Biohub, which supports patient-centered research in rare diseases — published a report When the program launched in 2019, it shows that half of the 20 organizations it funded had participated in clinical trials within five years.

This is remarkable progress made by advocacy groups led mostly by the communities they represent—ordinary parents from diverse backgrounds, partnering with researchers and clinicians to develop lifesaving treatments for their loved ones. But for many of these families, figuring out where to begin this process can be incredibly complicated.

ultragenyxan established player in rare and ultra-rare drug development, aims to fill this gap and provide families and patient advocates with the tools and resources to discover a cure.

Twice a year, the company hosts Rare Bootcamp, a multi-day forum that helps families learn about conducting rare disease research and the key steps toward developing a new drug. It also allows them to connect with others going through similar experiences.

The event is free for attendees and is supported by other biotechnology companies such as Alexion, BioMarin, GeneDx and BridgeBio, which also send experts to participate in the panels.

At its most recent bootcamp, held in Boston last month, the company held more than 20 sessions covering the full spectrum of drug development, from early science to regulatory approval.

Emil Kakkis, founder and CEO of Ultragenyx, started the bootcamps nine years ago, inspired by the difficulties he experienced researching new treatments in his early days in the industry.

“There are no books, no ‘CliffsNotes’ on how to develop a drug,” Kakkis said.

“I struggled and struggled and promised myself at the time that if I ever got to a position where I knew how to do it, I would tell it to anyone who needed it,” Kakkis said.

Mike and Evelyn Ribadeneyra attended the latest training camp. They are trying to find a treatment for their daughter Abbie, who suffers from hereditary spastic paraplegia type 26, a progressive neurodegenerative disease that takes two decades to diagnose.

Although they initially said they didn’t start their journey hoping to find a cure for their daughter’s condition, last year they discovered that a gene therapy existed for a similar disorder called SPG 50.

“We have been on a long journey, but our new journey begins at the rare disease boot camp,” said Mike Ribadeneyra.

The Ribadeneyras came to Boston to get a road map on how to persuade others to do research on their children’s behalf and develop a proof of concept for the drug.

“I didn’t know what to expect, but it was overwhelming. The access to researchers, experts, and doctors… I feel like they’re truly in our community now,” Evelyn said.

The event also serves as a meeting place for families and advocates struggling with similar circumstances. Through networking sessions at the conference and dinners at the end of the day, participants share tips and compare notes on their rare disease journeys.

“We’ve felt so alone for years, and my daughter feels so alone too… and it’s really encouraging to know there are other people going through the same process,” Mike said.

Laura Wilson attended the event to help her daughter Ellia, who was diagnosed with a rare neurodevelopmental disorder called ReNU2.

Wilson went nearly nine years without an official diagnosis for Ellia, as the gene was only identified in April 2025. He recently founded an organization called ReNU2 United to help families affected by the disease. So far, approximately 60 families in 17 countries have found that their children have this disorder.

Wilson attended Ultragenyx’s boot camp to learn about treatment development from the experts in the room and to learn best practices from other families who use their organization to support their research.

“No one in this room has a child with the disorder that my child has, but we have a lot in common,” Wilson said in an interview.

“The experience of being a parent of a child with a rare disorder is so unifying that you see it right away,” Wilson said.

Co-hosted by the EveryLife Foundation, an advocacy group Kakkis founded in 2009, the boot camp grew through word of mouth. Nearly two dozen participants attended last month’s event, and nearly 235 people from 142 organizations have completed the program since its inception.

It has also inspired other similar events such as RARE. Development Advocate Brain Workshop. Organized by the Rare Epilepsy Network, Mahzi Therapeutics, and advocacy group Global Genes, this workshop focuses on rare diseases that attack the central nervous system.

But ultimately, Kakkis says he looks forward to the day when such events will no longer be needed.

“My hope is that one day we will solve this problem,” Kakkis said. “And we’ll know it’s fixed because we’ll no longer see parents having to develop their own drugs. All of this will be done. That’s my hope, too.”

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