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Rare Trait Swiss (008.727.799/01) is a tax registered non-profit organization with a mission to develop a cure for AspartylGlucosaminUria (AGU), a genetic neuro-degenerative disease.Â
We need to raise $2 million to manufacture the medicine for a clinical trial taking place in 2022 to cure this disease and we currently need your help to raise CHF500,000 to secure the manufacturing.
Aspartylglucosaminuria or AGU for short, is an ultra-rare genetic disease belonging to a group of lysosomal storage disorders. Lysosomes are cellular compartments containing enzymes, responsible for the final (cellular) breakdown of fats, proteins and sugars.
A malfunction of this enzyme leads to the physical and neurological disease manifestations.
This means that their body is not producing an important cellular enzyme. AGU kids are born healthy and happy. They develop and learn skills normally. As the disease progresses and waste builds up in their body, between the ages of 2 and 5 years, the first signs of the disease start to appear.
Life expectancy is from 25 to 35 years of age. Young adults typically die from infections. Prior to death, AGU causes intellectual disability which progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned and affected adults usually have only a few words in their vocabulary. Adults with AGU may develop seizures or problems with movement. There is currently no approved treatment for AGU.
A disease or disorder is defined as rare in Europe and in Switzerland when it affects not more than 1 in every 2,000 persons.
Many rare diseases have genetic origins.
They are often life-threatening or result in chronic invalidity.
Many appear at birth or in early childhood, while others don’t emerge until patients are much older.
The fact that a rare disease affects only a small number of people means that there is little specialist knowledge available. Patients, and their physicians, are geographically far apart.
For this reason it frequently takes years or even decades for the condition to be diagnosed correctly.
Since they are so rare that there is little or no awareness of them, people suffering from these diseases often encounter a lack of understanding. This can lead to social isolation and result in major administrative obstacles
Diseases can be present from birth when someone is born with a defective or missing gene. Alternatively, someone can develop diseases during adult life due to a gene mutation or change, which can disrupt correct protein production. Gene therapy is an innovative process that involves the introduction of a gene into cells to compensate for a missing or defective form of a gene.
This 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. 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.
There are a lot of steps involved getting a treatment to clinical trial. We are in the process of finalizing the location of the clinical trial and identifying and retaining a project manager with research experience to manage the Investigational New Drug process with the FDA and establish the treatment protocol. The money we are raising will be used to cover expenses associated with the preparation for and conduct of the clinical trial. These include travel, lodging and meeting fees, drug manufacturing, testing (safety, biodistribution and kinetics), clinical fees, hospital fees, clinical research organization costs (data processing) and related costs. It sounds like a lot, but we are actually SO CLOSE!!! We anticipate needing to raise US$3million and we hope to raise CHF500,000 of that here in Switzerland
Support medical & scientific research for AGU- rare disease
Promote the care & treatment recommended by the medical and scientific community
Fund a clinical trial intended to cure patients suffering from this disease.
Be a resource of information for AGU families and any individual who wish to be informed about AGU.
Raise Public awareness about the problems of cure, prevention, and diagnostic families are facing.
We are currently looking for financial support and volunteers Please contact us if you wish to make a vital impact .
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 200 children and young adults around the world have this rare genetic trait that also makes them nicest, honest, most helpful, sweetest people ever!Â
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!!!
These Kids are desperately waiting for their treatment. Our goal is to raise 2,000,000 in total to produce the medicine for the gene therapy that will stop this fatal disease
