Batten Disease and OHSU's Experimental Stem Cell Surgery

This is a group of rare, inherited neurodegenerative disorders associated with the accumulation of an abnormal pigment in the brain called lipofuscin. These diseases usually include mental retardation, blindness and early death. I will give an overview of the juvenile form, Batten disease.

Batten Disease is an inherited, fatal disease of the nervous system that begins in childhood. The first symptom is loss of vision. This is usually first suspected during an eye examination. Other early signs may include personality and behavior changes, slow learning, clumsiness and stumbling. These symptoms will progress to mental impairment, worsening seizures, progressive loss of sight and loss of motor skills. The child becomes blind, bedridden, and unable to communicate. The condition is always fatal by the late teens or early twenties.

There are four main types of NCL/Batten Disease, two that begin between about 6 months and 2 years of age and progresses rapidly. Children with the infantile type fail to thrive and have abnormally small heads, are short, and have sharp muscle contractions called myoclonic jerks. Initial signs of this disorder are delayed psychomotor development with progressive deterioration, other motor disorders and seizures. This infantile form is the most rapidly progressing form and children die in mid childhood.

This group of diseases are relatively rare occurring in an estimated 3 of every 100,000 births in the United States. They are more common in Finland, Sweden and other parts of northern Europe and in Newfoundland, Canada. Although this is a rare disease, it often strikes more than one person in families that carry the defective gene.

There is no treatment known that can halt or reverse the symptoms of Batten Disease and other NCL's.

Just this past week, OHSU in Portland, Oregon reported they have done an experimental stem cell transplant in the brain of an eight year old boy suffering from Batten Disease.

OHSU Does Experimental Stem Cell Transplant on Child With Fatal Disease

Child with Batten Disease Receives Brain Stem Cells

Another first for OHSU! Last week, Oregon Health & Science University's Doernbecher Children's Hospital surgeons performed a fetal stem cells transplant directly into the brain of a human. This is believed to be the first-ever transplant of its kind.

A six year old boy from California who can not walk or talk was given injections of human fetus stem cells that can form new brain and nerve cells. The theory is that stem cells can take root and grow in the brain supplying the enzymes that are missing in children with Batten Disease, a rare and fatal neurodegenerative disorder. About one in 100,000 children has this incurable disease and cannot clear toxins that gather in their cells. Children with Batten's disease usually lose their vision, have seizures and dementia and die before they reach their teens.

The cells have never before been transplanted into a human, but tests on mice with a Batten-like disease showed the stem cells grew and helped make the missing enzyme. It also extended the mice's lives. The child's father, a California assistant U.S. attorney believes this research 'is going to be one of the most profound medical breakthroughs in history, and we believe it's going to save his life."

This is the first of what is expected to be six operations on six children with Batten disease. The study has many implications. If it can be shown that stem cells regenerate nerve cells, it will open the door to treating

paralysis from spinal cord diseases and other neurodegenerative diseases like Parkinson's and multiple sclerosis.

Even the stock market reacted favorably to the possible advances. StemCells Inc., the company involved in the transplant saw its publically held stock raise 10 points on the Nasdaq exchange the day after the transplant was performed.

Batten disease has two forms, but both are fatal and children usually die before reaching their teens. In one form of the disease, children usually die before the age of 5. In the other form they generally do not live past 12 years of age.

Stem cell research is a controversial ethical issue. The stem cell product used for this transplant is from the brain tissue of aborted or miscarried fetuses with the permission of the mother.