RTC13 Read-Through Compound - Development of a drug that corrects nonsense mutations in patients with Duchenne

Frequently Asked Questions (FAQs) about this research:


What stage is this research?

  • This research is pre-clinical, meaning it has not advanced to clinical trials involving people yet.


Where is this research being done and who is funding this research?

  • This research is being done at the University of California Los Angeles (UCLA) and is or has been funded in the past by the Muscular Dystrophy Association (MDA), the National Institute of Health (NIH) and the Department of Defense (DoD).


What is the goal or purpose of this research?

  • We have identified a Glossary Link molecule called RTC13 that can restore a full-length dystrophin Glossary Link protein in skeletal muscles of Duchenne patients affected by nonsense mutations.They are generally caused by single point mutations in the dystrophin Glossary Link gene that lead to the inappropriate presence of specific sequences (UAA, UAG or UGA) called stop codons. These stop codons cause a premature arrest in the synthesis of the dystrophin protein. As a result, no dystrophin is produced in skeletal muscles and heart.We have shown that this drug can restore dystrophin expression in muscles of mdx, a widely used animal model for Duchenne. We have developed an orally viable formulation of the compound that patients can take as a pill. We are also working on developing new compounds that could be used as an alternative in the event that RTC13 shows limited effects in patients. Our next step is to optimize the dose of these new compounds necessary to achieve therapeutic effects in Duchenne patients and to conduct the safety and toxicology studies required to file an Investigational New Drug (IND) application to the Food and Drug Administration (FDA). It has been estimated that approximately 13% of Duchenne patients could benefit from read-through of nonsense mutations. Importantly, because the drug restores full-length dystrophin, the protein being produced is expected to be fully functional and should be able to halt or at least counteract disease progression.


What is the current state of this research?

  • The research is still at the preclinical stages which means that it has only been tested in animal models for DMD


What steps need to be completed before moving into a clinical trial?

  • We have completed proof-of-concept studies in the mdx mouse model for Duchenne. We are now focusing on conducting the toxicology studies needed to demonstrate that the compound is safe to use in children and young adults. The steps necessary to conduct toxicology and safety studies will require extensive economical resources. As such, effort will be placed on identifying potential funding sources through US government grants and other advocacy groups.


What is your best estimate for the length of time it will take to move this research into clinical trials?

  • We need to secure sufficient funds to complete the toxicology studies before the compound can be moved into clinical testing.


Where would a clinical trial take place?

  • It is too early to know where a clinical trial for this research would be located. 


Who would be eligible to participate in a clinical trial?

  • The inclusion criteria for prospective participants in clinical trials will have to be evaluated in detail based on the results obtained in animal studies and will be decided together with the sponsor of the trial and the FDA.


Where can I learn more about this research?