Gene therapy trial for Duchenne Muscular Dystrophy


Duchenne and Becker muscular dystrophy are both caused by mutations in the same dystrophin gene.

How it this possible?

Well, the genetic code which is translated to from proteins “talks” in words made of three letters (base pairs).

dmd dna

A gene mutation that deletes only one or two base pairs, or worse still signals the end of the word (known a “premature stop codon”) will result it a very abnormal dysfunctional gene product, leading to complete deficiency of functioning dystrophin, and the more severe Duchenne Muscular Dystrophy.

dmd muscle bx

Normal muscle bx (a) vs Duchenne muscular dystrophy (b) with complete absence of dystrophin (d)

However a gene mutation (deletion) that removes base pairs in a multiples of three is called an in-frame mutation, and causes a (sometimes only minor) qualitative change in the dystrophin protein, leading to the milder Becker’s muscular dystrophy.

Ataluren (also known as PTC124) is a small molecule designed to overcome premature stop codons.


Put simply, the idea is that it might convert some Duchenne boys in to a milder form (more like Becker’s) of muscular dystrophy by allowing them to produce some more normal dystrophin.

The drug can only help boys affected with premature stop codons confirmed by DNA testing.

The drug is currently undergoing Phase III trialsClick here for more information.

2 thoughts on “Gene therapy trial for Duchenne Muscular Dystrophy

  1. Comment received by email: I am a great fan of your frequent Neurology Updates as they educate me on many aspects of this rather difficult branch of science.
    Is there a list of clinical trials at your Institute? New Jersey seems to be conspicuous by its absence in most pages of clinical trials pages of NIH. It seems to be dwarfed by Sloan Kettering on one side and Johns Hopkins on the other. Our immediate areas of personal interest are lung cancer and IBM. It is a pity that a great national treasure like Princeton leaves out certain branches of science altogether. However, I would like to believe that is just my ignorance.

    • Thanks for your comment. While we do run some research projects at Monmouth, we do not have a centralized index across departments (I should work on that), and we do not have a lot of outside funding to support research.

      I would be very pleased to hear from any New Jersey people out there who would like to give their financial support and help me establish an academic neuroscience program close to home at Monmouth!

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