Help us stop AGU!
Every year, one to four AGU children are born in Finland. They appear healthy at birth but have a serious disease. In a few years, they are diagnosed with intellectual disability. They have AGU, a condition that progresses every year.
Small AGU patients could live a healthier life. You can help make it happen by supporting AGU research!
What is AGU?
A gene defect causes build-up in cells
AGU (aspartylglucosaminuria) is a metabolic disorder where a gene defect causes the glycoprotein aspartylglucosamine to accumulate in cells. This disrupts the normal functioning of cells, especially in the brain, and leads to severe intellectual disability.
The disease is most common in Finland, with single patients reported elsewhere. 1 in 65 Finns carries the AGU gene, and each year 1–4 AGU children are born in Finland. The disease can occur if both parents carry the same gene defect.
Newborns appear healthy
Early infancy with an AGU child can go without signs of the disorder. Newborns often have an umbilical or inguinal hernia but no other noticeable abnormalities. When compared to their healthy siblings, even small children may already have coarse facial features that are characteristic of the disease.
Play-aged AGU children learn at a slower rate, and before starting school they are clearly behind in development. Health check-ups reveal delayed speech and difficulty following instructions. Other typical symptoms include clumsiness, respiratory infections, restlessness and problems with speech, concentration and sleep.
The disease is usually diagnosed with a urine test at the age of 4 or 5, when developmental delay is already apparent.
Healthy-appearing children become severely disabled
The horror of AGU is that it progresses every year. AGU children never have the life that their healthy peers do. They usually attend school in special needs classes. At school age their intellectual disability is usually moderate. Few of them learn to read, and communication is often augmented with pictures and, when necessary, baby sign language.
During adolescence the progress of the disease becomes more apparent. Puberty starts earlier than normal, while the child is at the developmental stage of a 6-year old. Adolescence can occur with conduct disorders, and issues with sleep usually increase. At times the child may sleep very little if at all, which causes great challenges for their family's everyday life.
When AGU patients reach adulthood, supported housing may enable them to live independently, in their own home. However, in adulthood, patients' development declines rapidly. Their intellectual disability becomes more profound. Memory and skills worsen, and speech decreases to a few words. Over the years, patients' abilities decline to the level of a small child. They can also have complications such as epilepsy, rheumatism and osteoporosis.
People with AGU rarely reach the age of 50. They rely on the help of others throughout their lives. They gain no professional qualifications and never live independent adult lives. They don't fall in love, get married or have children. Their gene defect causes the life that their family hoped for them to be more or less over before it has a real chance to start.
Treatments for AGU are being researched
There is currently no medication or cure for AGU. However, a clinical trial that started earlier this year in Finland aims to alleviate symptoms of the disease with medication. The trial is headed by professor Ritva Tikkanen and doctor Minna Laine, and it includes 21 Finnish AGU children. Partial funding for the trial comes from the Jane and Aatos Erkko foundation.
In the United States, a local non-profit organization Rare Trait Hope Fund is funding research for gene therapy. Their aim is that within the next few years, first AGU patients would undergo a gene transfer that would make their cells function normally. This method would make it possible to cure AGU, making medication redundant.
Donate to help find a treatment and a cure
Gene transfer research and therapy is very expensive. Even though the research happens in the United States, patients in Finland and elsewhere stand to benefit greatly from it. If successful, gene therapy will cure small AGU children before their symptoms progress, enabling them to live completely normal lives, just like their peers.
We will use the funds raised through the Stop AGU! campaign to support efforts to treat AGU. The primary target of our funding is the ongoing research in Finland. After its first stage is secure, we can also channel funds to gene therapy research.