<unk>  is a terminal illness; the FDA has approved Brineura (cerliponase alfa) as a treatment for a specific form of<unk> . Brineura is the first FDA-approved treatment to slow loss of walking ability (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. Palliative treatment is symptomatic and supportive. One drug, an antisense oligonucleotide, milasen, described in The New England Journal of Medicine, is believed to be the first “custom” treatment for a genetic disease. It is named after Mila Makovec, the only patient who may ever take it. It could help another exceedingly rare patient who has the same mutation as Mila.
Batten disease
Keshan disease
Akureyri disease
Krabbe disease
Farber disease
Karak syndrome
Sandhoff disease
Menkes disease