Patient-customized oligonucleotide therapy for a rare genetic disease

This remarkable case report - by authors from Boston Children’s Hospital and funded by Mila’s Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-year old girl with Batten disease, a degenerative neurological disease due to neuronal accumulation of lipofuscin and characterised by intractable seizures. They first tested the drug ex vivo, using cell lines from the patient, then showed that systemic administration reduced the frequency of seizures and halted her previously deteriorating neurological function.