Rare Trait Hope Fund

Our mission is to facilitate research, raise funds and support development of treatments and a cure for ultra-rare diseases, and Aspartylglucosaminuria (AGU) specifically; to be the resource for doctors, scientists and families world-wide; to increase awareness of rare diseases in general and Aspartylglucosaminuria in particular. The mission of our organization is to develop treatments for ultra-rare fatal diseases with no treatments. We are developing a treatment for the first ultra-rare disease, called Aspartylglucosaminuria (AGU), a fatal neurodevelopmental childhood disorder that is diagnosed as autism.

We've been developing two different treatments for Aspartylglucosaminuria since 2013: Chaperone Therapy and Gene Replacement Therapy. Both drug developments go through the same development process. Chaperone therapy uses already existing medicines to treat a new disease (AGU), hence after testing it in a patient's cultured cells, governing authority allowed it to progress into a clinical trial. Gene replacement therapy went through several years of a rigorous pre-clinical animal testing to prove efficacy and safety of the chosen formulation of the gene therapy medicine. The results of this study was published in 2021.

Since then we

- Manufactured gene therapy drug (AGA gene + delivery vector);
- Conducted drug clearance testing and received certificate for the drug.
- Conducted safety and toxicology, dose determination and biodistribution study;
- Applying to FDA to start the clinical trial