US researchers are set to test a fetal nerve stem cell treatment for Batten disease, a rare and currently incurable genetic brain disorder. Oregon Health and Science University (OHSU) says the trial aims to test the safety of the approach, since transplants of purified nerve stem cells have never been carried out in patients before. The cells are produced by the Californian firm StemCells Inc, which received approval from the Food and Drug Administration (FDA) for the treatment last October. Now, OHSU's Institutional Review Board has given the go-head for the first trial to begin.
Batten disease refers to a group of genetic conditions called Neuronal Ceroid Lipofuscinoses (NCLs), which cause mental impairment, worsening seizures and progressive loss of sight and movement. Affected children gradually become blind, bedridden and unable to communicate. There are four main types of this severe life-limiting disorder: a juvenile form that first appears between the ages of 5-8, two that begin earlier in childhood and a very rare form that affects adults.
The disease is caused by one of several different faulty genes, all of which make proteins that usually break down harmful substances in the cell. In people with NCL disorders, one of these 'lysosomal enzymes' is missing or not working properly, which leads to a build-up of substances called lipopigments in the body's tissues. Eventually, this build-up triggers the death of nerve cells in the brain, retina and central nervous system. Robert Steiner, who is leading the study - along with surgeon Nathan Seldon - says that NCL is 'a heartbreaking and devastating diagnosis for children and their families'. He said that previous research on fetal nerve cell transplants in animals has showed promise, but stressed that 'to our knowledge' such transplants have never been carried out in people before. 'It is our hope that stem cells will provide an important therapeutic advance for these children who have no other viable options', he added.
The trial will test the suitability of the treatment for patients with the infantile and late-infantile forms of NCL, but not the juvenile or adult forms of the disorder. The children will receive injections of the stem cells directly into their brains, and will be followed up for at least four years. In this way, the scientists hope to gain some initial results on whether the treatment can slow the progression of the disease, as well as its safety.
Other ongoing trials are testing the effectiveness of fetal cell transplants for brain disorders such as Parkinson's and Huntington's disease. 'Delivering the benefits of stem cell technology directly into the human brain will, in my opinion, be a major step forward in the efforts of scientists and clinicians around the country to find new treatments with the potential to help tens of thousands of patients with degenerative brain diseases', Dr Seldon said in a press release.