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The Ongoing Research Efforts
What researchers know about Late Infantile NCL is that it is a rare disease that is inherited from both parents. It is an autosomal recessive disorder, which means that both parents are carriers of the disease (they carry the defective gene). "Most people carry different faulty genes but in Batten's (and other recessive conditions) parents, though healthy themselves, carry the same faulty genes, and risk passing them on to their children" (Institute of Child Health, 2004). The disease affects nerve cells in the brain and other parts of the body, causing a progressive loss of physical and mental skills.
Late Infantile Batten Disease is caused by an abnormal buildup of substances in the nerve cells throughout the brain and body, which prevents them from working properly. These substances are normally broken down and removed from the body by an enzyme, however, in Batten Disease, the gene responsible for producing the enzyme is faulty, so this normal process cannot occur. As the brain is the control center of the whole body, blockages in the messages to other parts of the body will prevent those parts working efficiently, even though the parts themselves seem quite healthy (Institute of Child Health, 2004).
Batten Research That's Important to the Children
There over the past 5 years there has been a steady stream of research intiatives with varying purposes. Some mearly to understand Batten Disease and it's varying forms, and some attempting to find treatment options and cures. Until a discovery is found to natrualisticly cure Batten, treatment research is vital.
Other Kinds of Batten Disease Research
Batten Disease Research Articles & Publications
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The BDSRA Illuminator is the quarterly newsletter providing information to families and associate members. -
BDSRA NCL Publications - Directed to LINCL publications, however, other forms of BD also on this page as well.
Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
Researchers today are rapidly discovering, and understanding, how genes work. A team of dedicated researchers in New York City have recently completed gene replacement therapy research in primates and have now begun phase I clinical trials on humans. This pioneering research funded in part by Nathan's Battle Foundation, and supporting families world wide, is being conducted at the Weill Medical College of Cornell University, in New York City, USA.
What researchers know is that the gene responsible in LI Batten Disease is the CLN2 gene. In children with Late Infantile Batten Disease (LINCL) this gene is mutated, thus not working properly. Through experimental research, scientists are confident they are able to replace this mutated gene. This corrective gene is encapsulated within a transfer medium (adeno associated virus) and introduced into the subject. Preliminary clinical trial results "suggest that AAV-mediated gene therapy may be more efficacious in humans than has been demonstrated in animal models. This is not entirely unexpected since AAV is a human virus and has evolved mechanisms to efficiently infect human cells. All of these data suggest that AAV-mediated gene transfer may be an effective form of therapy for many metabolic disorders including the lysosomal storage diseases" (NCL Research Alliance, 2003). It is believed that once the gene has been introduced into the human subject that the necessary enzyme (TPP1) will, in turn, begin production and function normally giving the afflicted a more favorable prognosis.
In February of 2004 the FDA approved the first treatment for children of LINCL and the first child was introduced to the treatment in June of 2004. Although a very proud moment for Nathan's Battle and it's supporters, it is only be beginning. Eligible children will now have to travel to New York where they will be screened, and if eligible, undergo treatment. Although a large step for families, it is a step many are not only willing to make, but have waited patiently to make. As with any research, results take time and the start is slow, but it is hoped that his treatment will prove beneficial for the many who now have access to it.
For more information see: http://www.clinicaltrials.gov/ct/show/NCT00151216
StemCells, Inc. Receives Clearance to Initiate Phase I Clinical Trial of Neural Stem Cells to Treat Batten Disease
Although still controversial in the US, stem cell research is making strong gains in the research community and is gaining strong support from legislators and regulatory bodies, including the FDA. Once only associated with spinal cord injuries, stem cell technology is now branching out and showing promise in other areas of disease, including Batten Disease. A group of biotechnology scientists at Stem Cells Incorporated in the USA, have discovered a method "for growing human central nervous system (CNS) stem and progenitor cells in culture as clusters of cells called ‘neurospheres'" (Stem Cells Inc, 2006). As a result of this discovery, scientist were able to manipulate these cultures into "all three of the major cell types of the brain and spinal cord—neurons, astrocytes, and oligodendrocytes" (Stem Cells Inc., 2006). Animal trials proved fruitful as "the cells migrated and specialized into different cell types depending on their surroundings (Fricker, et. al. 1999; Englund, 2002)".
Expanding from these groundbreaking finds, scientists were able to replicate the method using human central nervous system stem cells and now have FDA approval to move into phase 1 clinical trials on humans. "The proposed Phase I trial is designed to investigate the safety and preliminary efficacy of HuCNS-SC in the treatment of infantile and late-infantile NCL in patients with either the CLN1 or CLN2 gene mutation. HuCNS-SC will be transplanted into the brain through a surgical procedure performed by a pediatric neurosurgeon" (Stem Cell Inc., 2006).
For more information see: http://www.stemcellsinc.com/clinicaltrials/clinicaltrials.html
or http://www.bdsra.org/news/stemcell.htm
Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis (INCL)
Quite simply, this is an investigational drug research trial examining the effectiveness of a drug called Cystagon in treating infantile neuronal ceroid lipofuscinosis (INCL). "Preliminary results indicate that Cystagon slows down the rapid neurodegeneration characteristic of INCL" (ClinicalTrials.gov., 2006).
For more information see: http://www.clinicaltrials.gov/ct/show/NCT00028262?order=4
The exciting news is that a REAL potential treatment is NOW available for those who are afflicted. Researchers have shown that this treatment may be beneficial in the management of symptoms, halting of symptoms, and the possible slowing or halting of the progression of LINCL. Either or, any beneficial treatment against this disease is an important step to improving the quality of life for these children. Now, more than ever, is the funding more needed to continue supporting the advances of research so that more medical marvels can happen.
For more information
on this revolutionary treatment and other treatments being currently investigated
visit