ESPEYB17 14. The Year in Science and Medicine (1) (16 abstracts)
14.8. Patient-customized oligonucleotide therapy for a rare genetic disease
Kim J , Hu C , Moufawad El Achkar C , Black LE , Douville J , Larson A , Pendergast MK , Goldkind SF , Lee EA , Kuniholm A , Soucy A , Vaze J , Belur NR , Fredriksen K , Stojkovska I , Tsytsykova A , Armant M , DiDonato RL , Choi J , Cornelissen L , Pereira LM , Augustine EF , Genetti CA , Dies K , Barton B , Williams L , Goodlett BD , Riley BL , Pasternak A , Berry ER , Pflock KA , Chu S , Reed C , Tyndall K , Agrawal PB , Beggs AH , Grant PE , Urion DK , Snyder RO , Waisbren SE , Poduri A , Park PJ , Patterson A , Biffi A , Mazzulli JR , Bodamer O , Berde CB & Yu TW.
To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.
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.
This approach is the ultimate in individualised disease management. First, they used whole genome sequencing to detect her unique compound heterozygous mutation in the MFSD8 gene, then they designed a unique antisense oligonucleotide to block the effects of her aberrant splice site mutation. The girl’s name is Mila, and her drug is named after her. I urge you to read her story at: https://www.milasmiracle.org/milasen.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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