#PaveTheWayFDA - Galactosemia Community Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Patients with Life-Altering Rare Disease

We, the undersigned, urge 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 causes severe lifelong complications. Our message to the FDA is as follows:

We need a treatment for galactosemia. Galactosemia is a rare genetic disease for which there are currently no approved treatment options. Patients with galactosemia are unable to metabolize the simple sugar galactose, which is present at high levels in all forms of dairy, including breast milk, and is also present at lower levels in fruits, vegetables, legumes, along with many other foods. To help manage the condition, people with galactosemia must eat a galactose restricted diet. However, diet alone is not enough.

Dietary restrictions do not prevent the serious long-term complications of the disease because they cannot prevent the body’s endogenous, or natural production, of galactose. In fact, the body naturally produces approximately 10 times more galactose than patients ingest on the galactose restricted diet.[1] When not metabolized properly, galactose is converted into toxins, one of which is galactitol. This can cause long-term developmental, cognitive, behavioral and physical dysfunction in people with galactosemia.

We need a treatment urgently.  The clinical study of govorestat showed a decline in the placebo group in daily living skills, behavior, adaptive skills, and tremor, proving that damage and disease progression occurs steadily over time. By the time some patients reach adulthood, the damage has created a wide gap in cognition and daily living skills compared to their peers, and hinders adults from living independently. Parents of children in the galactosemia community have noted heartbreaking challenges, such as trouble advocating for themselves outside the home, lacking social interaction with their peers, struggling with basic school subjects like reading, writing, and math, and tremor that hinders them from basic daily living activities. They also express anxiety over the development of new symptoms such as more severe learning disabilities, loss of memory, tremor, and seizures.  

Our desire is for people with galactosemia to live as independently as possible. Improvements across the activities of daily living, behavior, cognition and tremor would be significant to our community. These improvements could allow galactosemia patients to care for themselves independently, have the cognitive ability to learn skills alongside their peers, advocate for their own needs and wants, live absent of seizures, and have steady hands in order to participate in daily activities. It could mean the ability to build relationships, having age-appropriate emotional and behavioral regulation, and less time spent in a therapy setting. It could also relieve the financial burden our community bears from countless interventions that are not covered by insurance.

Galactosemia patients, and caregivers of children with the disease, deserve the opportunity to have access to this medicine. Govorestat (AT-007) has been shown to be a safe medicine with the potential to impact many disease complications of greatest concern to the galactosemia community. Clinical trial data has shown that the medicine is well-tolerated, and has very few adverse events and no serious adverse events, making the risk/benefit equation skewed heavily toward benefit. Clinical trial data has also shown a statistically significant reduction on the toxic metabolite galactitol, as well as statistically significant improvement on clinical and functional patient outcomes, including adaptive behavior, activities of daily living, and tremor over 18 months of treatment compared to placebo. Additionally, consistent improvement was shown on measurements of cognition and fine motor skills.

Based on the tremendous burden of disease and the compelling evidence that govorestat (AT-007) may offer galactosemia patients a better chance of an independent life, the galactosemia community urges the FDA to review and approve this medicine as quickly as possible. We know the FDA is dedicated to listening to patients and advancing safe and effective new medicines that will benefit patients, and we hope to partner with the FDA to advance this mission on behalf of the galactosemia community.

 
[1] A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. Calcar, et al. 2 May 2014.