The Rare Moments

I am proud and excited to work alongside my rare disease warriors who push hard every day to drive progress. The focus on developing therapies for rare diseases is more than just scientific progress — it’s a movement that gives a voice to those without the numbers. It brings hope to patients, families, and entire communities, turning advocacy into action. By driving diagnosis and treatment for conditions that often go overlooked, we are not just addressing unmet needs; we are reshaping the future for the few who deserve the same urgency and innovation as the many.

A rare moment is more like a rare lifetime. My first-born daughter screened positive for PKU. That brought with it monthly specialist appointments, a huge learning curve, and crazy conversations with family members on identifying which long-gone relatives could possibly have had PKU but not identified since there was no screening at the time. Luckily, my daughter is a “mild-hyperphene” and did not need meal supplements. As a baby and young child, we used to describe her as having a prickly personality.

Fast forward to adolescence – when the normal PKU range was lowered, and she became eligible to start oral sapropterin. In less than a day, she was like a different kid – no longer prickly since things didn’t irritate her as they used to. Somewhere in young adulthood, she realized that taking sapropterin makes her feel better. As a parent, I sit back and thank the research world for creating the screening test back in the 1960s and for finding a treatment for PKU. We have a long way to go to find ways that positively impact everyone with this genetic defect, but the scientific community continues to work toward treatment, and this makes a mother’s heart happy.

I have seen so many families without hope losing children (young and adults) to rare diseases despite the investment of time/money, and emotions. One of the most fulfilling days for me was when one such family was able to watch their child markedly improve about 8 months after treatment!

I am happy to be a part of the Worldwide Clinical Trials Rare Disease team. I love knowing my work and efforts can make a difference for an underserved population.

This year, I had the opportunity to facilitate roundtable discussions at both World Orphan Drug Congress (WODC) Europe and WODC United States. These discussions explored operational challenges and ethical barriers surrounding genetic testing, and I was fascinated to discover what varied conversations the different regions had. While WODC Europe centered heavily on ethical considerations around genomic and genetic data, WODC U.S. was highly operationally focused.

With Rare Disease Day in two weeks, I feel so fortunate to help further these conversations around genetic testing, which can make a significant impact in the treatment of rare disease patients around the world.

Check out my blog to learn more about the key regional distinctions:

World Orphan Drug Congresses Europe vs. The US: Global Perspectives on Genetic Testing

Explore insights from the World Orphan Drug Congresses in Europe and the U.S., where Worldwide Clinical Trials’ Derek Ansel led discussions on operational challenges and ethical barriers in genetic testing for rare diseases.

www.worldwide.com

With Rare Disease Day coming up, I’m reflecting on the continued innovations in CAR T treatments for rare oncology patients over the last few years. The global research community launched a record number of CAR T clinical trials in 2024, gaining momentum while building on the strength of several approved CAR T treatments. I’m excited to see these treatments now developed for rare patient communities outside of oncology and looking forward to being part of setting these new standards of care.
 
Find out more about bringing CAR T to new clinics in my on-demand webinar: 

Expanding CAR T Beyond Oncology: Medical, Operational & Practical Considerations

Watch this on-demand webinar on expanding CAR T therapies beyond oncology, with insights for autoimmune and neurology trials for sponsors, sites, and patients.

www.worldwide.com

Hear from Nathan Chadwick, Senior Director and Therapeutic Strategy Lead for Rare Disease.

We’re excited to relaunch Rare Moments—a space to share updates, events, and resources throughout the month of February. Join us in amplifying voices and stay connected by bookmarking the page!

Read our latest blog post to learn about the cell and gene therapy trends Trinity Life Sciences is watching for 2024!

This Rare Disease Day, I am thinking about how phenomenal it is to see how rare oncology patients have benefitted from the 6 CAR T treatments now available! It is exciting to watch how continued advancements have turned CAR T into a new development paradigm for autoimmune diseases – looking forward to seeing these additional patient communities benefit from cell therapy!