Brineura (cerliponase alfa) is the first approved treatment for Batten disease, a rare, rapidly progressing brain disorder that occurs in an estimated two to four of every 100,000 live births in the United States.
About Batten disease
Batten disease is an inherited lysosomal storage disorder. This means that genetic mutations interrupt cells’ ability to dispose of waste, such as proteins and lipids, that accumulate inside cells.
Symptoms include seizures, visual disorders, personality and behavior changes, dementia, loss of movement, and loss of language skills.
Versions of Batten disease are classified according to the gene that is mutated:
- CLN1 disease – Chromosomes are building blocks of life that contain hundreds to thousands of genes, and the CLN1 gene is situated on chromosome 1. CLN1 disease is an autosomal recessive disease. This means that both chromosome 1 pairs in the people affected by the disease carry the mutated form of the gene. This happens because each parent, while not being affected by a mutation, passes one on. Genes contain code that they use to create proteins, and the CLN1 gene encodes for a protein category called lisossomal enzymes. The name of the actual lisossomal enzyme that CLN1 encodes is palmitoyl protein thioesterase 1 or PPT1. The mutations that a person with Batten disease inherit prevent the enzyme from working properly. This leads to abnormal storage of proteins and lipids, which trigger the disease’s symptoms.
- CLN2 disease – The CLN2 gene is situated on chromosome 11. CLN2 disease is also an autosomal recessive disease. It, too, leads to PPT1 enzyme deficiency, which triggers abnormal storage of proteins and lipids.
- CLN3 disease – The CLN3 gene is situated on chromosome 16 and encodes for a transmembrane protein. When the gene is mutated, nerve cells cannot function properly, leading to symptoms of the disease.
- Other variations of Batten disease exist as well. For example, mutations of the CLN5, CLN6, CLN7, CLN8, and CLN10 genes, which encode for lysosomal or membrane proteins, also cause Batten.
How Brineura works
The U.S. Food and Drug Administration has approved Brineura to slow the decline in children’s ability to crawl or walk. The authorization is for youngsters over 3 years old with CLN2 Disease.
Brineura is an enzyme replacement therapy. Its active ingredient, cerliponase alfa, is a recombinant form of the PPT1 enzyme. A recombinant enzyme is one that scientists have created with genetic material from a number of sources.
Brineura is injected into brain fluid. Doctors recommend 300 mg of Brineura once a week for children over the age of 3, followed by an infusion of dissolved minerals called electrolytes. Each treatment takes about 4 1/2 hours. Doctors recommend that patients take antihistamines or corticosteroids 30 to 60 minutes before an injection.
Doctors should monitor vital signs such as blood pressure and heart rate before, during and after the injection.
Brineura in clinical trials
Researchers studied Bineura’s effectiveness in a clinical trial (NCT01907087). Twenty-four children received and were compared to a natural history control. The children were at least three years old and had movement or language problems. Those who took Brineura experienced less decline in their walking ability than untreated children.
Brineura’s safety was evaluated in a clinical trial (NCT02485899) involving 24 children between ages 3 and 8 with CLN2 disease. Researchers have yet to establish the drug’s safety in children younger than 3. The FDA wants to see such studies, in addition to research on whether Brineura is safe when administered to children for at least 10 years.
The most common side effects of Brineura are fever; heart rhythm problems; decreased or increased protein in brain fluid; vomiting; seizures; hypersensitivity to heat, cold or other stimulation; hematoma, or an abnormal collection of blood outside of blood vessels; headaches; irritability; increased white blood cell count in brain fluid; and low blood pressure.
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