Galactosemia Foundation Calls for FDA to Reconsider the Use of the Accelerated Approval Pathway for Rare Disease Treatment

For Release January 31, 2022 – The Galactosemia Foundation, a patient advocacy group in the United States focused on supporting patients and families living with galactosemia, is calling on the U.S. Food and Drug Administration (FDA) to reconsider a path forward for an accelerated approval pathway for AT007, a potential first-ever treatment focused on preventing the life-altering complications resulting from this ultra-rare genetic metabolic disease.

Accelerated approval is critical to the galactosemia community, as well as other rare diseases because there are no other meaningful alternatives. “Due to the nature of ultra-rare diseases, like galactosemia, it is unlikely that statistical significance will be realized for years,” said Brittany Cudzilo, mother of two with classic galactosemia.“Our community is devastated; we don’t have months or years to continue to wait for treatment. Our children are experiencing irreversible damage every minute of every single day.”

The Galactosemia Foundation implores the FDA and Congress to reconsider their suggested next steps and timeline for an accelerated approval pathway for AT-007, which is desperately needed for our patient population. Despite the FDA having a department that is committed to understanding the impact and burden of rare diseases, it appears they have not taken into consideration the significant unmet need, patient stories, or experiences with galactosemia. Our organization appreciates any opportunity to educate others, including regulators, about our
experiences to help them make better-informed decisions.

“Galactosemia is a scary diagnosis for a parent to receive, and usually one that is given while a child is failing to thrive in the first few days of life,” said Nicole Casale, President of the Galactosemia Foundation. “We watch helplessly as our children rapidly decline in health, sometimes to the point of sepsis, meningitis, and liver failure; in the absence of treatment, hope is all we have to offer. Grief and shock are just the beginning; our lives continue with ongoing challenges and hurdles that vary with age and severity of the disease.” If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Infants typically experience feeding

difficulties, a lack of energy, a failure to gain weight, jaundice, liver damage, and abnormal bleeding. Other serious complications of galactosemia can include sepsis, shock, tremors, seizures, and further cognitive delays. Affected children are also at increased risk of cataracts, speech difficulties, and intellectual disabilities. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries. Adults with galactosemia struggle with social anxiety and depression because their cognition and speech are delayed and interacting with their peers feels overwhelming. Navigating careers may present some hardships and some adults struggle to be financially independent.

“Our community needs an accelerated pathway that brings us closer to the first-ever treatment for galactosemia, outside of dietary restriction,” said Jodie Solari, a mother of a child in the AT-007 trial. “If the need wasn’t there, then you wouldn’t see so many families weathering the hardship of a clinical trial or rallying such an outcry when the hope of a first-ever potential treatment slips further away from reality.”

Galactosemia was discovered in 1908. We’ve gone more than a century with no cure or approved treatment. The time for change is now. We are asking that the FDA and Congress not turn their backs on our rare disease; please allow AT-007 to proceed timely with the accelerated approval
process.

About Galactosemia
In medical terms, galactosemia is an ultra-rare genetic metabolic condition in which a child is born without the GALT enzyme which breaks down the simple sugar galactose. Instead of leaving the body like it would if GALT were present, the galactose stays and attaches to red blood cells, while also causing two poisonous by products to be released: galactose-1-phosphate and galactitol. These three agents enter the body and cause damage to internal organs such as the brain, liver, eyes, and reproductive system. While this disorder affects each person differently, many people encounter cataracts, learning disabilities, speech disorders, neurological/motor impairments, and growth delays. The disease is usually diagnosed from the newborn screen because in most cases it would be fatal within 10-14 days of life. The only current treatment is following a galactose-free diet, which restricts adding galactose to the body. It does not, however, do anything to combat the
galactose that the body creates on its own, which causes further damage to the internal organs. This leaves the patient with a progressive state of disease and, in some cases, difficult life circumstances as they grow into adulthood (i.e., tremors, seizures, inability to live independently, speech issues, infertility, etc.).

About the Galactosemia Foundation
Galactosemia Foundation Inc. is a non-profit charitable organization that advocates for people with galactosemia and their families. Founded in February 1985, Galactosemia Foundation helps provide families information about Galactosemia and facilitates networking between families, clinicians and researchers. Our mission and objectives include education, support and advocacy for those affected by Galactosemia. For more information about the Galactosemia Foundation and its board of directors please visit galactosemia.org.

Media contacts: Jodie Solari (517) 410-8958