Health
AAV gene therapy for maple syrup urinary disease shows promise
Maple syrup urinary disease (MSUD) is a rare genetic congenital error in metabolism characterized by a recurrent life-threatening neurological crisis and progressive brain damage. This disease is usually caused by a bi-mutation of the gene (branched chain α-ketoacid dehydrogenase E1α (BCKDHA), E1β (BCKDHB), or dihydripamide branched chain transacylase (DBT) subunits are the ones that are mitochondrial bckdh dersid dersid dersid dersid dersid dersid dersid dersivleucine, isoleucine, and valine. MSUD can be treated by a tightly controlled diet or allogeneic liver transplantation.
Now, new research shows that gene therapy has prevented neonatal death, normalised growth, restored coordinated expression of affected genes, and restored stabilizing biomarkers in calves and mice.
This work has been published on Science Translation Medicine In the paper, “Bckdha-bckdhb dejanic gene therapy recovers metabolic homeostasis and calves with classic maple syrup urinary disease in two mouse models.”
“Simply put, we believe that gene therapy, demonstrated, especially in both animal species, is a very good idea of the potential treatment of MSUD, as diseased cows without treatment have a very similar metabolic profile to patients.”
MSUD occurs in one person at the time of 197,714 births, but is much more common in Brazil, Portugal, Turkey, the Philippines, and certain regions of Ashkenazi or Mennonite descent. Among the Mennonite population, such as the Lancaster County community, Pennsylvania, the incidence of MSUD is 1 in 400.
Researchers in the current study designed a dual-functional recombinant adeno-associated virus serotype 9 vector to deliver gene replacements to the liver, muscle, heart and brain.
More specifically, gene therapy was “codon-optimized BCKDHA and BCKDHB” (raav9.ha-bip-hb) to the liver, muscles, heart and brain. raav9.ha-bip-hb co-expression of bckdha and bckdhb, and bckdh holoenzyme activity of bckdha-/-hek293t cells, did not ingest the physiological branched chain amino acid homeostasis in 2.7 × 10 biotype mice.14 Vector genomes per kilogram. ”
They write that one-off treatments retain the prospects as a therapeutic alternative to prescription diets and liver transplants for the treatment of two most common forms of MSUD in humans, MSUD types 1A and 1B.
More specifically, in two models of severe MSUD (Bckdha−/− and Bckdhb−/− mice) and a newborn calf homozygous for BCKDHA c.248C>T, “one postnatal injection prevented perinatal death, normalized growth, restored coordinated expression of BCKDHA and BCKDHB in the skeletal muscle, liver, heart, and brain, stabilized MSUD biomarkers in the face of high protein intake.”
Data from calves were translated more directly into humans to understand pharmacokinetics, specific therapeutic effects on muscle and brain tissue, and long-term durability due to the expanded stages of growth.
“We believe that gene therapy could be a breakthrough for MSUD patients, and we will meet at a cattle farm in Iowa in August 2018 to pursue that vision: to develop and test gene therapy in a newborn model of MSUD.”
Wang said the researchers are exploring the next step in converting this gene therapy into clinical use as an I/II study. This study was funded in part through an agreement with ASC Therapeutics, a private biopharmaceutical company developed for in vivo gene recruitment, gene editing, and allogeneic cell therapy.
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