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CLN2 Disease

What is CLN2 Disease?

CLN2 (late infantile neuronal ceroid lipofuscinosis type 2) disease is an ultra-rare and rapidly progressing pediatric brain disorder1 and one of the most common forms of neuronal ceroid lipofuscinosis, a group of inherited disorders collectively known as Batten disease.2,3 Only an estimated 20 children in the United States born per year are affected with CLN2 disease – less than one in a million Americans.4,5

CLN2 disease is autosomal recessive, meaning both parents of an affected child have a specific mutation on their tripeptidyl peptidase 1 (TPP1) gene. Parents are usually asymptomatic carriers. If both parents carry the mutation, there is a 25 percent chance that their child will have CLN2 disease. 1,6

Children with CLN2 disease produce deficient levels of the enzyme TPP1 (tripeptidyl peptidase 1). Without this enzyme, children are genetically unable to dispose of wastes normally metabolized in a cell’s lysosomes. The wastes accumulate in organs, particularly the brain and retina, contributing to the loss of cognitive, motor and visual functions.1

Signs and Symptoms

Seizures are the most common symptom that brings children to medical attention between ages of 2-4. Oftentimes, children can have a history of language delay. Symptoms typically do not present until age 3, at which point children who were previously healthy and developing normally can suddenly experience seizures and language delays. The condition rapidly progresses to dementia, the loss of the ability to walk and talk, and blindness. By age six, most affected children will be completely dependent on families and caregivers. Sadly, these children typically die between the ages of 8 and 12. 3

Treatment Options

In April 2017, the U.S. Food and Drug Administration (FDA) approved Brineura (cerliponase alfa), an enzyme replacement therapy indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with CLN2 disease. Brineura – the only treatment approved for any type of Batten disease – is the first enzyme replacement therapy to be directly administered into the fluid of the brain, treating the underlying cause of CLN2 disease by replacing the deficient TPP1 enzyme missing in affected children.7

The most common adverse reactions in patients treated with Brineura include fever, ECG abnormalities including slow heart rate (bradycardia), hypersensitivity, decrease or increase in CSF protein, vomiting, seizures, hematoma (abnormal collection of blood outside of a blood vessel), headache, irritability, increased CSF white blood cell count (pleocytosis), device-related infection, feeling jittery and low blood pressure. Please see Important Safety Information, below.

Additional Resources

For additional information about CLN2 disease, please visit the following websites and others listed in the Patient/Physician Resource Library:

  • Brineura.com
  • CLN2connection.com
  • CLN2family.com
  • BDSRA.org
  • Noahshope.com

Please see Important Safety Information below

Indication

Brineura (cerliponase alfa) is a prescription medication used to slow loss of ability to walk or crawl (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency.

Important Safety Information

Brineura is a prescription medicine. Before treatment with Brineura, it is important to discuss your child’s medical history with their doctor. Tell the doctor if they are sick or taking any medication and if they are allergic to any medicines. Your child’s doctor will decide if Brineura is right for them. If you have questions or would like more information about Brineura, contact your child’s doctor.

Brineura is only given by infusion into the fluid of the brain (known as an intraventricular injection) and using sterile technique to reduce the risk of infection. An intraventricular access device or port must be in place at least 5 to 7 days prior to the first infusion. Intraventricular access device-related infections were observed with Brineura treatment. If any signs of infection occur, contact your child’s doctor immediately. Your child’s intraventricular access device may need to be replaced over time.

Brineura should not be used in patients with active intraventricular access device-related complications (e.g., leakage, device failure, or device-related infection) and with shunts used to drain extra fluid around the brain.

Low blood pressure and/or slow heart rate may occur during and following the Brineura infusion. Contact your child’s doctor immediately if these reactions occur.

Undesirable or hypersensitivity reactions related to Brineura treatment, including fever, vomiting, and irritability, may occur during treatment and as late as 24 hours after infusion. Your child may receive medication such as antihistamines before Brineura infusions to reduce the risk of reactions. Serious and severe allergic reactions (anaphylaxis) may occur. If a reaction occurs, the infusion will be stopped and your child may be given additional medication. If a severe reaction occurs, the infusion will be stopped and your child will receive appropriate medical treatment. If any signs of anaphylaxis occur, immediately seek medical care.

Safety and effectiveness in pediatric patients below 3 years of age have not been established.

The most common side effects reported during Brineura infusions included fever, problems with the electrical activity of the heart, decreased or increased protein in the fluid of the brain, vomiting, seizures, hypersensitivity, collection of blood outside of blood vessels (hematoma), headache, irritability, and increased white blood cell count in the fluid of the brain, device-related infection, slow heart rate, feeling jittery, and low blood pressure. Intraventricular device-related side effects included infection, delivery system-related complications, and increased white blood cell count in fluid of the brain.

These are not all of the possible side effects with Brineura. Talk to your child’s doctor if they have any symptoms that bother them or that do not go away.

Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.

Please see accompanying full Prescribing Information, or visit www.Brineura.com.


1 Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases– clinical perspectives. Biochim Biophys Acta. 2013;1832:1801-1806.
2 Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® [internet]. Seattle, WA: University of Washington;1993-2016.
3 What is Batten Disease? Batten Disease Support and Research Association. Accessed April 2017. http://bdsra.org/what-is-batten-disease/.
4 Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet. 1992;42:536-538.
5 Martin J. A., Hamilton B. E., Ventura S. J., Osterman, M. J., Wilson, E. C., Mathews, T. J., et al. (2011). Births: Final data for 2010. National Vital Statistics
6 Batten Disease Fact Sheet. National Institute of Neurological Disorders and Stroke. Accessed April 2017. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Batten-Disease-Fact-Sheet.
7 Brineura [package insert]. Novato, CA: BioMarin Pharmaceutical Inc.; 2017.

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Lysosomal Storage Disorders (MPS I, MPS IVA, MPS VI, CLN2 disease) PKU, LEMS

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