Gene therapy digest - 2021

Gene therapy digest - 2021

ASC Therapeutics to codevelop first in-vivo gene therapy program for maple syrup urine disease

AAV gene therapy (Preclinical) – ASC Therapeutics

  • ASC Therapeutics with University of Massachusetts Medical School (UMMS) will co-develop a gene therapy for Maple Syrup Urine Disease (MSUD)
  • Under the agreement, UMMS will develop multiple animal models for MSUD, as well as conduct pre-clinical testing using animal models and proprietary AAV constructs
  • ASC Therapeutics receives an exclusive option on the selected constructs and intellectual property resulting from this partnership
  • Both will jointly conduct further IND-enabling studies, regulatory and manufacturing activities to obtain IND clearance and advance this program into clinical stage (For full story click here)

ASC Therapeutics and University of Massachusetts Medical School to develop gene therapy for maple syrup urine disease

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CI Scientists Commentary:

  • Maple syrup urine disease is a rare genetic disorder affecting degradation of the branched-chain amino acids (BCAA) leucine, isoleucine and valine, and their ketoacid derivatives
    • MSUD is caused when a mutated form of the BCKDHA, BCKDHB or DBT gene is inherited from both parents
    • As a result of this mutation, the body is unable to breakdown certain parts of proteins. This leads to the build-up of toxic substances that can cause organ and brain damage
    • Estimated incidence is 1 in 185,000 infants worldwide
    • Presentation starts with non-specific symptoms of increasing neurological dysfunction and includes lethargy, irritability, and poor feeding, followed by focal neurological signs such as abnormal movements, increasing spasticity, and thereafter seizures and deepening coma
  • ASC Therapeutics is currently pursuing the development of gene replacement therapies, in-vivo gene editing, and allogeneic cell therapies for hematological and other rare diseases

– Dr. Kowndinya, CI Scientists

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