Galactosemia Foundation Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Children with Life-Altering Rare Disease
ALBANY, N.Y., April 25, 2023 – The Galactosemia Foundation, a non-profit charitable organization that advocates for people with galactosemia and their families, urges the U.S Food and Drug Administration (FDA) to incorporate the experiences and perspectives of people living with galactosemia and their caregivers in the agency’s review of govorestat (AT-007), the potential first-ever treatment for this rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications. The Galactosemia Foundation has shared qualitative data on the patient journey and burden of disease with the FDA on several occasions including an externally led patient-focused drug development meeting held in September 2022, patient and caregiver focus groups and direct outreach to the agency.
The results of the ACTION-Galactosemia Kids registrational clinical study evaluating govorestat in children with galactosemia were recently announced. The study sponsor, Applied Therapeutics, also announced its plans to request a meeting with the FDA as soon as possible to discuss a potential New Drug Application (NDA) submission in the second half of 2023, as well as its intention to submit a Marketing Authorization Application (MAA) with the European Medicines Agency (EMA) in mid-2023.
“We implore the FDA – as an organization dedicated to meeting the needs of patient communities – to carefully consider galactosemia patient and caregiver experiences, including data we have shared with the agency from an externally led patient-focused drug development meeting and additional patient and caregiver focus groups, during their review of govorestat to understand how meaningful the approval of this medication could be for enabling our children to live more independent lives,” said Brittany Cudzilo, vice president of the Galactosemia Foundation and a mother of two children with galactosemia. “As a galactosemia advocate, I have a broad perspective on the symptoms of greatest concern to our community and am enthusiastic about the evidence that govorestat is a safe and effective medicine that can improve many of these symptoms, including activities of daily living, behavior, cognition, fine motor skills, adaptive skills and tremor.”
“As a mother, my perspective is deeply personal,” Ms. Cudzilo continued. “During her time in the govorestat clinical trial, although we were blinded to treatment, my five-year-old daughter Ansell has seen marked improvement in her ability to express herself, remember friends’ names, regulate her emotions and build relationships. She may lose access to this medicine, which has become a gateway to a more fulfilled life for her, if it is not approved. My youngest daughter Louise, who is 18 months old and also lives with galactosemia, may never have access. For patients experiencing life-altering symptoms and irreversible damage from galactosemia every day, and for the caregivers who experience this journey with their loved ones, govorestat represents new hope and a chance at a better life.”
Galactosemia was discovered in 1908. The galactosemia community has gone more than a century with no approved treatment. The time for change is now.
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 causes poisonous byproducts to be released, including galactitol. These 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 by newborn screening; in almost all cases the disease would be fatal within 10-14 days of life if not diagnosed. The only current treatment is following a galactose-free diet, which restricts adding galactose to the body. It does not, however, combat the galactose that the body creates on its own, which is ten times more than the amount in a galactose-free diet, and causes further damage to the internal organs. This can cause for 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 November 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, and follow the Galactosemia Foundation on Facebook and LinkedIn.