These kids are desperately waiting for their treatment. We need $2,000,000 to manufacture the medicine for a gene replacement therapy that will stop this fatal disease.
Our story started when Daniel and his brother Alexander were diagnosed with a rare fatal disease in 2012 and given 10-15 years to live. We started to investigate what could be done to save the boys. A few months later we met Hermance's parents. They had received the same devastating diagnosis for their daughter. We decided to organise and fund the research community that would develop the treatment for this disease.
Since then, we've met parents from around the world who are fighting to save the lives of their children. Below are the stories of some of the kids with this rare disease who are desperately waiting for treatment. Their time will be cut short if we can't find enough money to pay for their cure. We have already funded all the required studies to start the clinical trial for their treatment. We just need your help to get us over the goal line to save these kids!
Patients? No, just kids
What Is Aspartylglucosaminuria (AGU)?
Aspartylglucosaminuria (AGU) is a rare genetic disease that slows down child development in primary/middle school. It is one of many lysosomal storage disorders. About 150 children and young adults around the world have this rare genetic trait that also makes them nicest, honest, most helpful, sweetest people ever! However, it also slowly takes their lives away. Up until now, there has been no established cure for the disease. It was first described in the 1960s and yet no cure has been found. The disease is very well described and documented with only one thing left to do: Manufacture the CURE!!!
Gene Replacement Therapy replaces the faulty AGA gene, so the child can produce a missing enzyme. It is a one time treatment. Learn more about the progress and how you can help.
Many AGU patients are currently receiving different chaperone therapies depending on each patient's individual genetic mutation. These therapies can be applied to different diseases.
Symptoms of the disease, does my child have AGU, how to get tested and treatment
Information about the disease, differential diagnosis, disease progression, etc.