Batten Disease (Most common form of a group of disorders called Neuronal Ceriod Lipofuscinoses – NCL) is an inherited disorder of the nervous system, and appears usually in childhood, between the ages of five and ten. In 1903, British pediatrician first discovered this disease. Symptoms of NCL become noticeable as the child develops: Vision problems (During an eye examination Batten disease may be first diagnosed or suspected. A neurologist would be able to confirm the diagnoses.), communication problems or seizures. The disease then manifests, taking the form of personality and behavior changes, slow learning, clumsiness or stumbling, suffer mental impairment, and bedridden. Children are often mistakenly diagnosed to have epilepsy or mental retardation. Eventually Batten disease will cause death in children as young as eight years old. In the United States at least 600 children are diagnosed with Batten disease. Estimated four of every 100,000 births in the United States develop this disease. The disease is caused by a lack of enzyme or defective gene (Inherited by two copies of a defective gene, one from each parent.), unable to break down complex fat and protein compounds in the brain. The material accumulates and interferes with normal cell and tissue function, and eventually brain cells die. Children inheriting one defective gene, will not develop Batten disease, but can pass the gene onto their own children. There is no test to identify carriers of Batten disease.
Batten Disease affects different age groups progressively. Infantile NCL begins between about six months and two years of age, and progresses quickly. Children have abnormal small heads (microcephaly), sharp muscle contractions (myoclonic jerks) and die before the age of five. In some cases, those surviving a few years older, live in a vegetative state. Late Infantile begins between ages two and four. Those children have loss of muscle coordination, seizures, and eventually die between ages eight and twelve. Adult NCL begins before the age of forty. Progress of the disease has mildest symptoms without blindness, and does have the shortest life expectancy.
Diagnostic tests can confirm if a child has Batten disease. Blood and urine tests having elevated levels of a chemical called dolichol are found in NCL patients. Skin or tissue samples examined in a laboratory under an electron microscope will show NCL deposits, and especially noticeable if seen in sweat glands. Abnormal brain electrical activity observed by an electroencephalogram (EEG), confirms the diagnosis of this disease.
No treatment available for Batten disease. However, seizures can be reduced or controlled with anti-convulsant drugs. Physical and occupational therapy provides some relief, until the symptoms progressively worsen. Sometimes vitamins supplements (Including vitamins C and E, and diets with low in vitamin A.) can slow down the progressive symptoms. Support groups provide patients and families, how to cope with disabilities, and loss of cognitive function.
Stem Cells Incorporated, Pal Alto California has developed the first known human cell product (a stem cell product) and isolation techniques, from donated human fetal brain tissue (acquired with the mother’s consent) to treat Batten disease. Stored in frozen cell banks available human fetal tissue. The company will sponsor a trial study, conducted by a team from the Oregon Health and Science University Doernbecher Children’s Hospital to treat six children (Between the ages of two and twelve) suffering from Batten disease, before the end of 2006. The stem cells will be injected by needles directly into several different areas on both sides of the brain, through holes drilled in the skull. The surgeon will be guided by a computerized X-ray map, which details each child’s brain. Expected the cells will develop neurons or other nervous system tissue. The Children will be administered drugs to prevent rejection of the cells, and followed for a year. Once every thirty days, one child will undergo this surgery and be monitored for any complications, and review medical procedure. If complications develop, further transplant of stem cells will be discontinued. Vice Chairman of the pediatric research team is hopeful that the treatment will work for twenty-five other known hereditary brain diseases, related to Batten’s disease. The process for developing these stem cells could potentially treat spinal cord injuries. The Food and Drug Administration approved phase one trial study by Stem Cells Incorporated