Presentation
Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA. [cln2connection.com]
In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. [rarediseases.org]
Neurologic
- Irritability
They may be restless, irritable and have difficulty sleeping through the night. Some infants exhibit microcephaly, a condition that indicates that a child’s head circumference is smaller than would otherwise be expected based on age and gender. [rarediseases.org]
- Clumsiness
As the disease progresses, children may develop one or more symptoms including personality and behavior changes, clumsiness, learning difficulties, poor concentration, confusion, anxiety, difficulty sleeping, involuntary movements, and slow movement. [ninds.nih.gov]
Workup
Clinical Testing and Workup An enzyme assay is a test that measures the activity of a specific enzyme. [rarediseases.org]
Treatment
While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. [rarediseases.org]
There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration (see Treatment section). [ninds.nih.gov]
Current and emerging treatment strategies for neuronal ceroid lipofuscinoses. CNS Drugs. 2019;33(4):315-25. doi: 10.1007/s40263-019-00620-8. [ Links ] 8. Mole S, Williams R, Goebel H. [scielo.org.co]
Prevention
In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. [rarediseases.org]
By studying a compound that might improve the ability of support cells to recycle glutamate and prevent glutamate toxicity within neurons, researchers hope to develop a potential therapy for children with juvenile Batten disease. [ninds.nih.gov]