04/18/2023
AEGLEA abandons ARG1-D families by taking back lifesaving drug.
Aeglea Biotherapeutics of Austin TX refuses to release available lifesaving drug to children/patients as promised when trial completed.
A much-needed enzyme which showed positive results across the board for patients with the ultra-rare metabolic disorder Arginase 1 Deficiency will no longer be made available to children/patients in the U.S. The enzyme given as a subcutaneous injection on a weekly basis was able to absorb the buildup of arginine in patients with Arginase 1 Deficiency (ARG1D). When arginine builds up in the human body it crosses the brain barrier and causes severe and progressive brain damage. Normal ranges of arginine should be around 100. Children and adults with Arginase 1 Deficiency can be as high as 300 – 400 and some reaching as high as 800 and 1000.
While most babies appear healthy at birth the buildup of arginine in the body slowly and silently robs the undiagnosed children of the ability to walk, they lose the use of fine motor skills for daily activities like coloring, writing, buttoning & zipping clothing, and brain development. As the disease progresses these children suffer severe brain damage, failure to thrive and are affected by muscle spasms, spasticity, night terrors and dozens of seizures on a daily basis. More and more symptoms such as liver damage, osteoporosis, developmental & cognitive delays occur. Since this disease is progressive the damage only gets worse. Overtime patients lose all functions eventually become medically complex and need around the clock care with nutrients and medications delivered via ports and tubes. They become fully dependent and cannot even verbalize what they want, are hurting or need help.
Aeglea BioTherapeutics enrolled our families in double blind study trials where we gave of our time and support for the last 4 years. It was the understanding of the families that we would be starting up on an Open Label Extension Study for another year while the company worked with the FDA and Europe’s EMA to approve the drug. Patients were to back on drug this week. However, three days ago it was announced that the study was ending, and no drug would be made available. This was a huge jolt and shock to our families that had been holding on just waiting to start back on drug this month. Aeglea has made poor decisions previously and has a history of not following direction or requests by the FDA, however this is unacceptable. Aelgea owes it to our community to release this medication and get it back to our families where it is desperately needed!
This enzyme replacement worked. Arginine levels dropped immediately. With the drug we began to see improvements in our loved ones. The brain appeared to be healing. My own granddaughter 11 years of age started walking better and better. She was even able to jump with both feet again. Admittedly it was only a few inches but lifting even one foot off the ground had been impossible previously. Her seizures stopped and she was able to stop the medication to control her seizures that caused terrible side effects. One teenage boy anxious to be with his friends was admitted to the hospital where he had to have his body flushed with fluids trying to do anything to reduce his high arginine. An 8-year-old girl started having regular nosebleeds and muscle spasms that made it hard for her to walk again. A lovely 10-year-old girl that was able to walk while on drug was forced back to her wheelchair and eventually hospitalized. One of the young adults removed from treatment has lost her ability to walk and is no longer fully alert to her family and surroundings. To see these patients, lose the tremendous gains they made is cruel and unethical.
Aeglea BioTherapeutics continues to make the drug we need. This drug must continue to be provided to our families now that the trial phase has ended. There are less than 25 families here in the U.S. that depend on access to this drug until we can get full FDA approval. Physicians and clinics are willing to work with Aeglea BioTherapeutics to get this drug back to the patients that need this drug immediately.
Please help by sharing our story and spreading the word. Please help us save our children no matter how old they are. This drug changed our lives for the better. With public pressure applied to Aeglea BioTherapeutics the company executives, board and investors will be pushed to figure out a way to get this life changing drug back to our children.
