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With a final preclinical study now published, a gene therapy designed by Duke University researchers to improve treatment for the genetic disorder Pompe disease is set to enter a Phase 1 clinical trial. Now, the researchers need to raise the money to fund the trial.

Patients with Pompe disease, which affects infants and can also emerge later in life, lack or have too little of an enzyme called acid alpha-glucosidase, or GAA. GAA helps break down glycogen into fuel for cells, so without GAA, the buildup of glycogen damages muscles and leads to respiratory and heart problems.

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  • I’m pretty sure I have Pompe disease – late onset. My doctor is submitting the form for the genetic testing. I have tried to learn all I can about this disease. I read about ERT and talked to Genzyme about Lumizyme, and I found that Medicare will cover it but my copay will be $1,000 mo and I will have to take it for the rest of my life – and I’m on low Social Security so that’s not an option. But I wondered if Lumizyme would address the issue of the garbage already stored in the Lysosomes – which it doesn’t. In researching this I found some information about a Gene therapy that addresses this issue and apparently only one treatment is needed. I also read about the participation of the transcription factors TFEB and TFE3 in the regulation of lysosomal function and biogenesis and there were references to treatment with something called Trehalose. I would like to learn more about these treatments and I sure would like to be part of your clinical trials or do whatever it takes to get these treatments!

  • You can call it a “ferry virus”, but viral vectors in gene therapy have proven to be anything but innocuous, especially adenoviral vectors. Study the case of Jesse Gelsinger, who received gene therapy for ornithine decarboxylase deficiency, which killed him post haste. He would still be alive today if he were simply given a protein sparing diet.

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