Rare Voices: NORD and the Galactosemia Foundation Host Groundbreaking Meeting with FDA 

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For the first time in history, the Galactosemia community came together for a historic meeting to share their experiences with the disease and treatments – and hopes for the future – with the US Food and Drug Administration (FDA). NORD is proud to be one of many patient organizations to coordinate and host externally led Patient Focused Drug Development (EL-PFDD) meetings, which provide an opportunity for families and caregivers to share valuable insight and the impact of a rare disease on daily life directly with key government and drug developer stakeholders, including researchers, medical product developers and health care providers. 

On September 1, NORD and the Galactosemia Foundation hosted one of these critically important community gatherings for FDA. Nearly 300 attendees engaged live in the dynamic and interactive virtual meeting, featuring polling, video remarks, and earnest dialogue among the community, for a better understanding of the disease for federal decisionmakers and drug developers. Family members, caregivers, advocates, and community members who shared sincere and powerful testimonials during the four-and-a-half-hour EL-PFDD meeting on the burdens and symptoms of Galactosemia and hope for more robust treatment and cures in the future.  

After brief welcome remarks from NORD and the Galactosemia Foundation, a medical presentation by Dr. Judy Fridovich-Keil, and important regulatory remarks from Dr. Sheila Ferrell, Reviewer, Division of Rare Disease and Medical Genetics, FDA, the community storytelling was kicked off by Gillian S., a registered nurse, who opened the first virtual panel by recounting her daughter Penelope’s life with the disease, and the daily struggle for normalcy and comfort. This set the tone for a productive and compelling conversation between all relevant and attending parties. The goals of the meeting were to provide a robust understanding of the quality of life of individuals with Galactosemia, which aspects of the disease are most challenging for patients, what clinical trials and treatment options are available, and what actions families currently perform to treat their disease.   

The audience heard directly on the both the predictable and unpredictable burdens that come with such severe symptoms, including from Natalie W., a mother to two children with this rare disease. “Galactosemia affects everything for us… and then there are the speech deficits, which created barriers to communication not only between the kids and me but also with the friends and family who interacted with them. It created frustration, behavioral outbursts, and made it difficult to make friends.”  

Cassie A., another rare mom, shared the trials her daughter has faced, but also the vision she has for a more normal life. “When you live with a rare disease, everything is a fight, an obstacle, an effort, to live what my daughter calls, a normal life… It’s a fight just to get any form of treatment. Alenna was diagnosed with Classic Galactosemia on her 5th day of life… She has big dreams… I hate that Galactosemia is robbing her of her dreams. Her second dream is being a mom… most girls with Classic Galactosemia are infertile. It’s heartbreaking.” 

In the afternoon panel, Amy M. discussed clinical trials, in which her son participates, and the regulatory pathways that might help her son – and other rare parent’s children – get the care they need. “Because my child is not seeing the same results [in the AT-007 trial], I believe it is likely that he is on the placebo… this is where it would be especially helpful to have the Accelerated Approval Pathway available for this treatment. When the drug trial is extended by a Traditional Approval Pathway, our children suffer longer through the process of the trial.  Our children deserve to be on the actual drug in a timely manner.” 

After a morning of testimonials and powerful storytelling, the second half of the EL-PFDD focused more on facilitated audience discussion and strategic next steps off lessons learned. The Galactosemia Foundation and NORD would like to take a moment to recognize the strength, honesty and bravery of all the speakers, and we are very thankful for their openness to share challenging and emotional life experiences. To view or rewatch the full meeting, including the recorded stories and the ensuing discussion, please visit the NORD website. 

The rich content of the meeting will also produce a public “Voice of the Patient” report to inform the development of potential treatments that can improve the lives of current and future patients with Galactosemia. If you’d like your story or have additional comments to be included in the Voice of the Patient report, please email your remarks to events@rarediseases.org before October 1. 

The Galactosemia Foundation and NORD are grateful for engaged partners in the rare disease field interested in hearing patients’ and caregivers’ perspectives, who can help understand hopes for future treatments, treatment side effects patients are willing to tolerate, the medical risks they are willing to take in clinical trials, and their interests and challenges in participating in clinical trials. Scott Saylor, Treasurer of the Galactosemia Foundation and one of the co-hosts of the virtual meeting, closed out the meeting with powerful, lasting words for us to build upon: “Galactosemia is a brutal disease, but our families are strong and courageous… For those living with the disease and for future generations, we know this meeting will help bring better treatments, better options and more hope to change every galactosemics life. It is not enough to “live” with the disease, we want to thrive and have the opportunity to be a part of society, to live independently, to be in relationships, to keep up in school, to learn, to grow, to have families.”