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]

• Epilepsy

  78763 Phone: (512) 275-2600 Toll-free: 18776 Email: [email protected] Website: http://www.beyondbatten.org Children’s Brain Diseases Foundation 350 Parnassus Avenue Suite 900 San Francisco, CA 94117 USA Phone: (415) 665-3003 Email: [email protected] Epilepsy [rarediseases.org]

• Pain

  Pain medications including opioids and transdermal fentanyl patches have been recommended. Affected children may benefit from occupational, physical, and speech therapy. [rarediseases.org]

• Developmental Delay

  CLN1 disease is characterized by delays in reaching developmental milestones (developmental delays), twitching or jerking of muscles (myoclonic jerks), seizures, and mild to moderate intellectual disability. [rarediseases.org]

• Failure to Thrive

  Infants may fail to gain weight and grow as the expected rate (failure to thrive) and may have diminished muscle tone (hypotonia). They may be restless, irritable and have difficulty sleeping through the night. [rarediseases.org]

• 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]

• Convulsions

  Specific therapies for affected infants includes anti-seizure medications called anti-convulsants and medications that relax the muscles to treat spasticity. Specific medications may be used to treat anxiety and sleep disorders. [rarediseases.org]

Clinical Testing and Workup An enzyme assay is a test that measures the activity of a specific enzyme. [rarediseases.org]

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]

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]