The CMT Research Foundation is pleased to announce that Dr. Kleopas A. Kleopa and his team at the Cyprus Institute of Neurology & Genetics, Nicosia, have completed the third milestone of their 24-month CMT1A gene therapy project. CMT1A is caused by duplication of a region of DNA that includes the gene for PMP22, a protein that makes up a crucial part of the myelin sheath surrounding axons in the peripheral nerves. In people with this duplication the gene is overexpressed and the peripheral nerves gradually deteriorate, leading to weakness, problems with balance, and deformities of the legs and arms, frequently becoming debilitating. The overall goal of this project is to test a virally delivered gene therapy for its ability to reduce PMP22 levels to normal in a mouse model of CMT1A and improve or even reverse similar outcomes. During the project, Dr. Kleopa and his collaborator Dr. Scott Q. Harper at Nationwide Children’s Hospital in Columbus, Ohio, designed gene therapies with several different sequences and first tested them in cells in a dish. Using the best performing sequence, they then packaged the gene therapy in a viral delivery vector and gave it to rodents with CMT1A by injecting it into the fluid surrounding their spinal cords. The gene therapy reduced PMP22 levels in the peripheral nerve tissues by a substantial amount compared to mice who did not receive the therapy. Furthermore, when the researchers examined the nerves of the rodents under a microscope, there were far fewer signs of demyelination, and indication that the genetic therapy was having a beneficial effect on nerve health. And most importantly, measurements of nerve function, strength, and balance all improved significantly, often to levels that made the treated rodents indistinguishable from rodents without the CMT1A-causing mutation. Strikingly, the gene therapy provided a beneficial effect both in young rodents and in older rodents who already had significant loss of strength and balance. Taken together, these data provide important proof of principle for a promising approach to treating CMT1A. This brings the original scope of the project to completion, but as we alerted you in the most recent update, we have extended additional funding for this project to enable additional supportive experiments and analysis of biomarkers.
Researchers at Cyprus Institute of Neurology & Genetics Complete Third Milestone of CMT1A Gene Therapy Project
once again great news. one day these results will be shared through out the cmt world to assist those of ALL ages
I have CMT1A and am very excited about this new treatment, especially for the young ones! I will gladly volunteer for any trials!
I have type 1a I am 49 years old and live in Australia
Two of our daughters also have it
I would also LOVE to participate in any trial
This is amazing. I would happily volunteer for trials
I would like to be part of the trial
Terrific job and amazing results, from which we should be able to benefit for our CMT4A gene therapy project.
Can you please provide your action plan going forward? Also maybe give an idea of when we can expect human trials to take place? This is exciting news. My wife and two boys have aCMT1A. Keep up the good work!
So glad that there are people in the world that help us by doing research in CMT. Thank you so much. I am Ina Slabber. Me and my son has both CMT. I live in Wellington, South Africa.
Very promising news, I am 57 and have CMT1, so does my 34 year old daughter and 16 year old granddaughter and I would love to volunteer to take part in the trails.
I have CMT 1a and would be happy to participate in any trials,
Yo soy Karen Jiménez vivo en Costa Rica me gustaría participar en el estudio
I am in my 30s and would gladly sign up for human trials! Located in Michigan.
Very exciting news! I’m 55 with CMT 1a . I would be willing to be in this trial.
I am interested in participating in your research. I have CMT1A
I live in NY and would be interested in participating in this trial.