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Batten Disease Program

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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.

What is Batten Disease?

Batten Disease is an inherited genetic disorder in which the brain cells are missing an enzyme called tripeptidyl peptidase 1 (TPP1), which causes waste buildup in the cells’ neurons. As a result, the cells gradually lose their function and die. Patients begin exhibiting symptoms with developmental delays in speech, and then progress to loss of motor skills, unsteady gait, visual impairment, seizures and eventual death.

What causes Batten disease?

Batten disease, and all other NCLs, are inherited conditions that mostly affect the function of the brain. Many NCLs cause the body’s cells, especially brain cells, to lose the ability to dispose of waste products. The symptoms of Batten Disease occur because cells cannot function well with the buildup of waste products and start dying off.

What are the symptoms of Batten disease?

During the progression of Batten disease, symptoms can be different in each child. They can include:

Seizures (epilepsy)
Speech delays
Unsteady walking (ataxia)
Loss of motor skills and the ability to walk, talk and communicate
Cognitive decline
Visual impairment/blindness
Jerking movement of the muscles (myoclonus)
Dementia
Personality and behavior changes
Psychiatric symptoms, such as aggression
Extrapyramidal symptoms, such as spasms, restlessness, rigidity, tremors or jerky movements

How is Batten disease diagnosed?

Batten disease can be diagnosed if your doctor orders tests to specifically identify the presence of genetic changes in the NCL genes. A variety of tests are conducted to accurately confirm a Batten Disease diagnosis, including:

Blood or urine tests can help detect abnormalities in cells that may suggest a NCL.
Measurement of enzyme activity specific to CLN1 or CLN2 may identify low levels of these protein enzymes in the blood, which will lead to a diagnosis of those specific diseases.
DNA analysis is usually utilized to confirm a diagnosis by finding the specific genetic changes causing the disease. This test is typically obtained from blood, saliva, or skin.
Electroencephalogram (EEG) records electrical activity in the brain through electrode patches placed on the scalp. Physicians use painless and noninvasive EEGs to look for signs of seizures typical of certain NCL diseases.
Studies to measure how the eyes convert light to nerve signals are used since vision loss is the most common first symptom of CLN3 Batten disease. Visual-evoked responses and electroretinograms are effective tests for detecting various eye conditions common in childhood NCLs.
Computed tomography (CT) or magnetic resonance imaging (MRI) are diagnostic imaging tests which allow physicians to better visualize the appearance of the brain. MRI imaging test uses magnetic fields to help create images of the brain. CT scan uses x-rays and computers to create a detailed image of the brain’s tissues and structures. Both diagnostic imaging test can help reveal brain areas that are atrophic, or reduced in volume, in persons with Batten Disease.
Skin or tissue sampling is performed by extracting a small piece of tissue, which then is examined under an electron microscope. This can allow physicians to detect typical NCL deposits. These deposits are common in tissues such as skin, muscle, conjunctiva, and rectum.

Does Batten Disease Have a Treatment?

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.

A teenage boy smiles as he receives a Brineura infusion from neurosurgeon Dr. Joffre Olaya

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.