Rare Disease Families Learn Drug Development at Ultragenyx Bootcamp

Families battling rare diseases are increasingly steering their own research, and CNBC reported Thursday that biotech firm Ultragenyx has built a free bootcamp to help them navigate that path. Held twice a year, the multi-day forum walks patient advocates through every stage of rare disease drug development.

Why Rare Diseases Lack Treatments

Bringing a new drug to market can cost upward of a billion dollars. That timeline can stretch beyond a decade. For large pharmaceutical companies, rare diseases offer small patient populations and limited financial return. The result is stark: roughly 95% of the more than 10,000 known rare diseases currently have no FDA-approved treatment. For the parents of affected children, that statistic is not abstract.

Families Step Into the Research Gap

A broader shift is underway in patient-led science. A report released last October by Rare As One, a Chan Zuckerberg Biohub initiative, found that half of the 20 advocacy organizations it funded in 2019 had advanced to clinical trials within five years. Those groups are typically led by parents and community members working alongside clinicians and researchers.

Ultragenyx founder and CEO Emil Kakkis launched the Rare Bootcamp nine years ago after struggling himself to find guidance during his early career. He told CNBC there is no straightforward reference guide for drug development and that he committed to sharing what he learned once he had the expertise to do so.

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What the Bootcamp Covers

The most recent session took place in Boston last month and included more than 20 panels covering topics from foundational science to regulatory strategy. Sponsors including Alexion, BioMarin, GeneDx and BridgeBio sent specialists to participate alongside Ultragenyx staff. Attendance is free for families.

Also Read: Rare As One Network Annual Report

One Family’s Journey

Among those attending in Boston were Mike and Evelyn Ribadeneyra, whose daughter Abbie has hereditary spastic paraplegia type 26, a progressive neurodegenerative disorder that took twenty years to diagnose. The couple had not set out expecting to find a cure. Then they learned a gene therapy already existed for a genetically related condition. They arrived at bootcamp seeking a framework to recruit researchers and build a proof of concept. Mike Ribadeneyra told CNBC the access granted to specialists and clinicians had been overwhelming and far exceeded expectations.

The Ribadeneyras represent the exact audience Kakkis designed the program for: motivated families who simply needed a place to start.

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