First in the world, genome-based therapy for CLN7 Batten Disease

Custom made-therapy have arrested progress of ultra-rare CLN7 Batten Disease in a six year old girl.

The procedure have became one of the first truly personalized medicine approaches to an individual patient.

After reporting unusual but rapidly progressing symptoms, the patient received genome and transcriptome sequencing. Gathered data revealed extraordinary mutation in CLN7 gene. Insertion of another, duplicated sequence (retrotransposon) disrupted normal structure of the gene and deactivated normal production of a protein.

In almost a year, the research team developed and tried entirely new drug: antisense oligonucleotide molecule created specifically for encontered mutation.

Antisense oligonucleotides have ability to bind disrupted transcript of a gene, leading to proper protein synthesis. The method was first tested in patient cells outside her body, and then introduced by spinal fluid injections.

After months of treatment, progress of the disease was stopped. Batten disease normally results in rapid death.

More: “PgmNr 3570: Patient-customized oligonucleotide therapy for an ultra-rare genetic disease”, T. Yu et al., 2018, The American Society of Human Genetics.