Gene Replacement Therapy  

The initial symptoms of Aspartylglucosaminuria (AGU) are slow language development and speech delay which can be noticed as early as two years of age. School-age children are often diagnosed with ADHD or language/auditory processing disorder as they are slow to process information. Evaluators usually initially attribute AGU-linked inattentiveness or inability to process information to Autism or ADHD, which are more common disorders. As a result, all AGU kids end up being diagnosed with autism spectrum disorder and/or ADHD. They may be prescribed treatments or therapies for Autism or ADHD, which do not help AGU.

However, the reason for the Autism or ADHD-like presentation and behavior is a lack of cellular enzyme that breaks down glycoproteins. They are most abundant in the body tissues and in major organs, such as the liver, spleen, thyroid and brain. Unbroken pieces of glycoproteins accumulate in the body tissues are also excreted in urine. The process involves cumulative destruction of cell, and damage to tissues and organs, which lead to eventual death.

There is currently no approved treatment for AGU. The proper treatment for the disease is to introduce the missing enzyme back into the body. It is possible to do this with chaperone therapy or gene replacement therapy.

We need your help to start our clinical trial for a gene therapy. Please donate.

As always, changes can be good and bad. We have different color eyes, different shoe size, personality traits, etc. that make us who we are thanks to changes in genes from one person to another. Other inborn or acquired changers in genes make us have certain diseases like breast cancer, high cholesterol or blindness.

One of the options to cure these type of diseases is to go after the gene, trying to replace or alter it.

Disease can be present from birth when someone is born with a defective or missing gene. Alternatively, someone can develop a disease during adult life due to a gene mutation, different expression or change, which can disrupt correct protein production.

Gene therapy is an innovative process that involves the introduction of a gene into cells. The new gene can produce the missing enzyme or protein, restoring function of malfunction gene. The new gene is inserted into a patient’s cells through a vector, which is genetically engineered to be able to carry and deliver the gene into cells. If the gene injection is successful, the new gene can replace a disease-causing gene, help the body fight a disease, or turn off a gene causing problems. Therefore, this method can be used as an alternative to drugs and/or surgery, in order to treat, cure, or even prevent different diseases and medical conditions.

The gene called AGA is not working in a body of a child who has AGU. This means that their body is not producing an important cellular enzyme. Gene replacement therapy (GT) can be used to deliver the enzyme to the human body. It is a long and expensive process to develop a successful treatment. While working on GT, we funded the development of a Chaperone therapy. This keeps the children with AGU healthy and stops the progression of disease deterioration.