Treatment
Batten disease is a terminal illness, with no cure. Palliative treatment is symptomatic and supportive, however, there are possible treatments available to help alleviate symptoms.[3] Drugs to control seizures may benefit some patients, and physical and occupational therapy can help with motor problems that develop.[3] Ongoing research is studying anti-inflammatory drugs to treat the effects on vision that often develop with the disease.[3]Ongoing Research
There are many current studies being done to develop treatments for patients with Batten disease.
Gene Therapy-Researchers have studied the effectiveness of gene therapy in slowing the progression of symptoms of the disease. They used an adeno-associated virus that included the gene that encodes tripeptidyl peptidase 1 into the brains of canines that have the disease. They saw that symptoms of the canines progressed much slower and that they always lived longer when given the gene therapy treatment.[1]
Enzyme Replacement Therapy-There are many studies involving replacing the deficient enzyme with human product. One study treated mice by giving them tripeptidyl peptidase 1 via the ventricular system of the brain.[5] Side effects of the disease were blessed when treated with the enzyme, specifically the tremors that are characteristic of the disease.[5] Enzyme replacement therapy has also been studied is other animal models including the monkey and canine.[3][5]
Stem Cell Therapy- Stem cell transplantation is used to treat patients with other diseases similar to Batten disease. Researchers are currently studying the most effective use of stem cells for in patients with the disease, as well as what kind of stem cells, hematopoietic stem cells, neural stem cells, and induced pluripotent stem cells, would provide the most success in treating the symptoms of the disease.[3] One study transplanted human stem cells into the brains of mice with no PPT1 enzyme and found that the mice showed improvements in the disease course which could potentially lead to treatment in human patients.[6]
- ^ a b Katz, Martin L.; Tecedor, Luis; Chen, Yonghong; Williamson, Baye G.; Lysenko, Elena; Wininger, Fred A.; Young, Whitney M.; Johnson, Gayle C.; Whiting, Rebecca E. H. (2015-11-11). "AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease". Science translational medicine. 7 (313): 313ra180. doi:10.1126/scitranslmed.aac6191. ISSN 1946-6234. PMC 4968409. PMID 26560358.
- ^ Hawkins-Salsbury, Jacqueline A.; Cooper, Jonathan D.; Sands, Mark S. (2016-11-27). "Pathogenesis and Therapies for Infantile Neuronal Ceroid Lipofuscinosis (infantile CLN1 disease)". Biochimica et biophysica acta. 1832 (11): 1906–1909. doi:10.1016/j.bbadis.2013.05.026. ISSN 0006-3002. PMC 4573397. PMID 23747979.
- ^ a b c d e f Geraets, Ryan D.; Koh, Seung yon; Hastings, Michelle L.; Kielian, Tammy; Pearce, David A.; Weimer, Jill M. (2016-04-16). "Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis". Orphanet Journal of Rare Diseases. 11. doi:10.1186/s13023-016-0414-2. ISSN 1750-1172. PMC 4833901. PMID 27083890.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ "Batten Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". www.ninds.nih.gov. Retrieved 2016-11-15.
- ^ a b c d Chang, Michael; Cooper, Jonathan D.; Sleat, David E.; Cheng, Seng H.; Dodge, James C.; Passini, Marco A.; Lobel, Peter; Davidson, Beverly L. (2008-02-12). "Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis". Molecular Therapy. 16 (4): 649–656. doi:10.1038/mt.2008.9. ISSN 1525-0016.
- ^ a b Tamaki, Jacobs, Dohse, Cooper, Reitsma, He D, Tushinski, Belichinko, Salehi, Mobley, Gage, Huhn,Tsukamoto, Weissman, Uchida (2009). "Neuroprotection of host cells by human central nervous system stem cells in a mouse model of infantile neuronal ceroid lipofuscinosis". Cell Stem Cell. 5: 310–319.
{{cite journal}}: CS1 maint: multiple names: authors list (link)