FDA Approves First Treatment for Specific Form of Batten Disease

FDA approves Brineura for rare inherited disorder affecting the nervous system.

Today Brineura became the first FDA-approved treatment for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), a specific form of Batten disease, targeting the slow loss of walking ability in symptomatic pediatric patients 3 years of age and older.

CLN2, also known as tripeptidyl peptidase-1 (TPP1) deficiency, is part of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). This group is collectively known as Batten disease, which occurs in an estimated 2 to 4 of every 100,00 live births in the United States.

A rare, inherited disorder, CLN2 primarily affects the nervous system and the signs and symptoms begin to show between ages 2 and 4 in the late infantile form of the disease. These symptoms can include delays in language, epilepsy, difficulty in motor coordination, muscle twitching, and vision loss.

As the disease affects skills such as sitting and walking, those affected typically require a wheelchair by late childhood and often do not survive past their teen years.

“The FDA is committed to approving new and innovative therapies for patients with rare diseases, particularly where there are no approved treatment options,” said Julie Beitz, MD, director of the Office of Drug Evaluation III in the FDA’s Center for Drug Evaluation and Research in a news release. “Approving the first drug for the treatment of this form of Batten disease is an important advance for patients suffering with this condition.”

Brineura, an enzyme replacement therapy, contains cerliponase alfa—a recombinant form of human TPP1, the enzyme in which patients with CLN2 disease are deficient—as the active ingredient. It is administered into cerebrospinal fluid by intraventricular infusion with a surgically implanted reservoir and intraventricular access device.

For pediatric patients 3 years of age and older, the recommended dose is 300 mg once every other week, followed by an infusion of electrolytes. The complete treatment, including electrolyte infusion, lasts approximately 4.5 hours.

The FDA granted this application Priority Review and Breakthrough Therapy designations. Brineura also received Orphan Drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.

The FDA granted approval of Brineura to BioMarin Pharmaceutical Inc.