On April 27, 2017, the U.S. Food and Drug Administration approved Brineura (cerliponase alfa) as the first specific treatment for NCL. Brineura is enzyme replacement therapy manufactured through recombinant DNA technology. The active ingredient in Brineura, cerliponase alpha, is intended to slow loss of walking ability 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. Brineura is administered into the cerebrospinal fluid by infusion via a surgically implanted reservoir and catheter in the head (intraventricular access device).
Jansky–Bielschowsky disease
Camurati–Engelmann disease
Achondrogenesis type 2
Achondrogenesis type 1B
Hermansky–Pudlak syndrome
Metaphyseal chondrodysplasia Schmid type
Jansen's metaphyseal chondrodysplasia
Keppen–Lubinsky syndrome