Type 1 Galactosemia Roundtable Discussion

Galactosemia Foundation Overview

Nicole Casale, President, and Brittany Cudzilo, Vice President, of the Galactosemia Foundation opened the webinar. Nicole and Brittany, both board members of the Galactosemia Foundation and mothers of children with Type 1 galactosemia, described the mission and goal of the Foundation: (1) to educate, support, and provide advocacy for those affected by galactosemia and (2) to network with professionals to inspire treatment and advance and fund research of this genetic disorder.

Nicole Casale said, “When you get that diagnosis, it is a shock for families, because it is most likely something you haven’t heard about.” She continued, “Just being able to connect them with families who have been in their shoes” is so important.

Brittany Cudzilo explained that with classic galactosemia, a treatment beyond dietary restriction is critical, because the body of a person with classic galactosemia “is already producing more galactose [by itself] than that person might accidentally intake.” She added, “And there is nothing we can do about it.” This results in many of the complications that her own daughter experiences. “We can only watch for the symptoms, and treat for the symptoms,” said Brittany. “We need a treatment that will bring down the ‘poison’ that [the accumulating galactose makes]” to allow her daughter to continue towards a normal childhood.

Nicole Casale, President, The Galactosemia Foundation

Brittany Cudzilo, Vice President, The Galactosemia Foundation

Type I Galactosemia Expert Perspectives

Judith L. Fridovich-Keil, PhD, Director, Fridovich-Keil Lab, Professor, Emory University School of Medicine, and Gerald T. Berry, MD, Director of the Metabolism Program, Boston Children’s Hospital, and Professor, Harvard Medical School, provided a clinical overview of Type 1 galactosemia.  They shared how galactose enters the body (through diet or endogenous production) and how it is metabolized. The metabolic pathway, called the Leloir pathway, is interrupted by a deficiency of the GALT enzyme in patients with Type 1 galactosemia. The experts explained the genetics, screening and diagnostics, prevalence, and impact of mutations on GALT activity.

They stated that dietary modification is necessary to prevent the life-threatening complications in newborns, but it is not sufficient for preventing lifelong cognitive, neurological, and speech complications, as well as premature ovarian function. The clinical experts shared data comparing some of these complications in patients with classic galactosemia versus unaffected siblings. Lastly, they shared perspectives on the need for treatment options in this disorder.

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

Patient Advocacy

May Tobar, Director of Patient Advocacy at Jaguar Gene Therapy, explained that the patient advocacy team serves as the primary contact between Jaguar Gene Therapy and the patient community. It has worked closely with the Galactosemia Foundation and other advocacy groups “to develop a unique advocacy philosophy for our company—to advocate boldly and care fiercely.”

Ms. Tobar outlined the guiding principles under which the Jaguar Gene Therapy Team operates, which include collaboration, recognition of patients and families as experts, and reliance on the patient community for their input on clinical trial development.

Galactosemia Family Stories

Allison and Brooks Woodfin

Allison Woodfin told the story of her son Brooks, who was diagnosed days after birth with classic galactosemia. Allison described the shock of hearing the news that her seemingly healthy baby had jaundice and liver damage, possible infection, blood clotting issues, and abnormal blood sugar levels. Brooks needed intensive, team-based care to recover from the initial neonatal crisis.

Once stabilized, the health care professionals told Allison that “all you need to do is stick to the diet, and Brooks will be fine.” Allison emphasized that this is not the case. “Dietary restriction is not a treatment. It is the bare minimum. All our bodies naturally produce [galactose]. Unfortunately, he doesn’t have the ability to break it down.”

Megan and Ava Lilja

Megan Lilja described her daughter Ava’s journey through her pediatric development. “School is a struggle for Ava,” she said. Ava receives special education services, occupational therapy, speech therapy, and daily assistance at school.

Megan, based on her occupational therapist training, hoped to avoid the many neurological, cognitive, and developmental impairments associated with Type 1 galactosemia as Ava’s birthdays passed. However, these problems became apparent and seemed to accumulate over time. “Sometimes, it feels like it just doesn’t stop,” said Megan. “Unfortunately, I don’t think we’ve reached the end of that yet.” She is very concerned about Ava’s future: her cognition, her vulnerability, gaining basic life skills (e.g., to gain and hold a job, being able to pay her own bills, simple organizational skills), the effect of galactosemia on fertility. “I believe we need to advocate for this disease—it is more than just a dietary restriction,” concluded Megan. “Galactosemia has affected just about every part of our lives and our daughter’s life.”

David and DJ Trainor

David Jr. (DJ) Trainor is a 28-year-old with classic galactosemia. He and his father, David, provided a glimpse into how DJ meets the challenges of everyday life with the effects of galactosemia, including speech apraxia. DJ spoke about his disease, a metabolic disorder, and his dietary restrictions. “It is hard to talk to people,” DJ said, when asked what was one of the major effects of his speech disorder, a complication of galactosemia. Today, he likes going to the desert and operating remote-controlled cars.

Around the time DJ reached puberty, his absence seizures and tremors became more prevalent. Based on a neurological exam and MRI, it was apparent that DJ had changes to his brain’s gray and white matter, a neurologic complication of his galactosemia, which was not going to get better but could worsen over time.

His dad, David, said, “DJ has been a classic galactosemic young man, little boy, infant, who since 9 days of life, has overcome, surpassed, proved people wrong, and just trudged on through life as if there were no issues. He’s an incredible young man, who keeps it up daily with a smile on his face, all the time.”

Jaguar Gene Therapy Closing Remarks

Joe Nolan, CEO of Jaguar Gene Therapy, closed the conference by thanking the viewers, all the speakers, and the Galactosemia Foundation for being a great partner in building awareness for Type 1 galactosemia. He summarized the need to treat this life-threatening genetic disorder as early as possible and the implications of its lifelong complications.

Mr. Nolan described how Jaguar Gene Therapy is working hard on JAG101, an investigational gene therapy currently in preclinical development. JAG101 is a potential, one-time, gene replacement solution to address the root of cause of Type 1 galactosemia—providing the patient with a functional GALT gene. In the years to come, “we believe this [investigational] treatment option can have profound effects on the lives of those living with Type 1 galactosemia and their families,” he said.

Q&A

What is the appropriate time for intervention? Answered by Dr. Judith L. Fridovich-Keil, PhD

Why did you form Jaguar Gene Therapy? Answered by Joe Nolan, CEO, Jaguar Gene Therapy