Batten Disease Program
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Metabolic Disorders Referrals
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Batten disease is a rare and fatal disease of the nervous system that typically begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses, or NCLs. There are many forms of NCLs, known as CLN1 through CLN14, that are often referred to as Batten disease. Batten disease is a type of lysosomal storage disorder.
CHOC is one of the first among a few hospitals in the United States to provide Brineura™ to patients. Brineura™ is currently the only treatment for a specific form of Batten disease known as CLN2, or late-infantile NCL.
In April 2017, the FDA approved Brineura™ as a specific treatment for late-infantile onset neuronal ceroid lipofuscinosis (CLN2) disease. Years of clinical studies of CLN2 patients treated with Brineura™ found that the treatment slowed, or even stopped, the rate at which walking and speech were lost.
Currently, there are no other specific treatments known to halt or reverse the symptoms of any other types of NCL. Brineura™ is effective only for CLN2 type Batten Disease.
For all forms of Batten Disease, seizures can be reduced or controlled with antiepileptic drugs, and psychiatric and motor problems can be managed with medication. Physical therapy and occupational therapy may help patients retain motor functioning as long as possible. Gastrostomy tube placement may be required if patients lose enough eating ability that they can no longer maintain their weight. Get more information about other forms of NCLs.
How is Brineura™ administered at CHOC?
Brineura™ is a type of treatment called enzyme replacement therapy (ERT). It’s administered through intraventricular infusion – a method that allows Brineura™ to be directly delivered into the fluid surrounding the brain, known as the cerebrospinal fluid, to get to cells of the brain.
CHOC metabolic specialists work closely with our neurosurgery physicians and the nurses of our Neuroscience Institute to administer the medicine. Each CLN2 patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into the ventricle of the brain.
Every 14 days, a CHOC neurosurgeon and a team of highly trained nurses use highly sterile techniques to insert a needle into the patient’s Ommaya reservoir to administer the medication. The infusion lasts four hours, and after an hour of observation without side effects, the patients can go home.
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