A group of leading experts in metabolic disorders, advocates, and family representatives attended a virtual conference to discuss Type 1 galactosemia.

This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life. Galactosemia affects the body’s ability to make the enzyme that breaks down galactose, a simple sugar produced endogenously by the body that is also found in dairy and other foods, including breast milk. The genetic mutations driving galactosemia cause a toxic buildup of galactose and other metabolites (including Gal-1p and galactitol), which constitutes a medical emergency in newborns and can contribute to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.

No treatments are currently approved for galactosemia. The current standard of care—a galactose-restricted diet—is insufficient because the body endogenously produces galactose, resulting in the chronic complications mentioned above.

Hosted by the Galactosemia Foundation and Jaguar Gene Therapy, participants included:
- Nicole Casale, President, The Galactosemia Foundation
- Brittany Cudzilo, Vice President, The Galactosemia Foundation
- Gerald T. Berry, MD, Director, Metabolism Program Boston Children’s Hospital and Professor, Harvard Medical School
- Judith L. Fridovich-Keil, PhD, Professor, Emory University School of Medicine
Family Stories by Allison and Brooks Woodfin, Megan and Ava Lilia, and David and DJ Trainor
- May Tobar, Director Patient Advocacy, Jaguar Gene Therapy
- Joe Nolan, CEO, Jaguar Gene Therapy

Nicole Casale and Brittany Cudzilo of the Galactosemia Foundation described the Foundation and its goals, and their experiences with their own children affected by classic galactosemia.
Galactosemia experts Gerard Berry, MD, of Boston Children’s Hospital and Judith Fridovich-Keil, PhD, of Emory University School of Medicine, provided an overview of Type 1 Galactosemia and described the natural history of the disorder and its unmet needs.
The Director of Patient Advocacy at Jaguar Gene Therapy, May Tobar, shared the importance of patient advocacy and why it is important to work closely with the patient community.
Parents of two young patients with Type 1 galactosemia told stories of their children’s diagnoses, and their own experience with classic galactosemia. A 28-year-old patient with classic galactosemia offered his thoughts on living with the disorder and how he meets those challenges every day. His father provided additional perspectives.

The CEO of Jaguar Gene Therapeutics, Joe Nolan, closed the session by thanking all of the participants, including the Galactosemia Foundation, the experts, and the families who shared their personal stories. He also shared a little bit about Jaguar Gene Therapy and the treatment in development for Type 1 galactosemia, JAG101.