FDA Rejects Govorestat, Only Potential Classic Galactosemia Treatment

The Galactosemia Foundation, a non-profit organization advocating for individuals with Galactosemia and their families, has expressed deep disappointment following the U.S. Food and Drug Administration (FDA)'s issuance of a complete response letter (CRL) for govorestat. This investigational treatment is the first of its kind to be evaluated for Classic Galactosemia, a rare and potentially life-threatening genetic condition that can cause severe lifelong complications. These complications may include difficulties with daily activities, behavioral issues, cognitive impairments, fine motor skill challenges, and tremors.

Classic Galactosemia is a genetic metabolic disorder that impairs the body's ability to convert galactose, a sugar found in milk and produced by the body, into glucose. Instead, galactose is improperly metabolized into galactitol, a toxic substance that accumulates in the blood, tissues, and organs, including the brain. This toxic build-up is associated with neurological complications, significantly affecting daily living skills, behavior, cognition, speech, and motor functions.

With approximately 3,300 diagnosed patients in the United States and 80-100 new cases annually, and around 4,400 patients in the European Union with about 120 new cases each year, the need for effective treatment is critical. Newborn screening for Galactosemia is mandatory in the United States and most European Union countries, aiming for early detection and management of the disease.

The Galactosemia Foundation, established in November 1985, is dedicated to providing support, education, and advocacy for those affected by this genetic disorder. The organization facilitates networking among families, clinicians, and researchers to share information and resources. The foundation's mission includes ensuring that accurate and timely information is available to the community and advocating for the needs and voices of individuals with Galactosemia.

Nicole Casale, President of the Galactosemia Foundation, has urged the FDA to reconsider its decision regarding govorestat. She emphasizes the urgent need for treatment for individuals with this debilitating disease. The community has seen significant improvements in the lives of those who have participated in clinical studies or the expanded access program for govorestat. Casale highlights that the patient voice is crucial in the evaluation of this therapy, which has the potential to alter the course of the disease and enable those affected to lead fuller, more independent lives.

The foundation is committed to supporting the Galactosemia community during this challenging time by offering resources for emotional support and continued advocacy. They aim to ensure that the voices of those affected by Galactosemia are heard and that a path forward is established for the approval of effective treatments.

In summary, the Galactosemia Foundation is calling on the FDA to reconsider its decision on govorestat, the only potential treatment currently available for Classic Galactosemia. The foundation remains steadfast in its mission to support and advocate for individuals and families facing the challenges of this rare genetic condition, striving for a future where effective treatment can significantly improve the quality of life for those affected.