Late-Onset Pompe Disease - Healing Genes

Late-Onset Pompe Disease

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Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease (AAV9-GAA_IM)

Evaluation of Re-administration of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV9-DES-hGAA) in Patients With Late-Onset Pompe Disease (LOPD)

Phase 1


The University of Florida researchers are conducting a trial of an experimental treatment for late-onset Pompe Disease. The treatment, a genetically modified, harmless virus, is designed to transfer a functional GAA gene which provides instructions for producing an enzyme called acid alpha-glucosidase. The treatment will be combined with Rituxan (chemotherapy) and Sirolimus (immune suppressive) to prepare the immune system prior to the injection of the investigatory drug one leg and opposite leg after four months. The following 3 months after each injection, follow up will assess the safety, biochemical and functional impact of the gene therapy.

The researchers hope that delivery of the gene will achieve reduced muscle damage and edema; however it is important to understand half of participants will receive a placebo and no participants will know which they have received. Follow up continues for 520 days.


  • Be 18 to 50 years of age
  • Have a diagnosis of Pompe disease, as defined by protein assay AND/OR DNA sequence of the acid alpha-glucosidase gene, AND clinical symptoms of the disease
  • Have received gene transfer agents within the past 6 months


  1. Prescreening tests to confirm eligibility of the patient to participate.
  2. Rituxan (chemotherapy) and Sirolimus (immune suppressive) are administered first.
  3. Gene therapy is injected in one leg, with lidocaine to precede it and numb the injection site.
  4. Diphenhydramine (Benadryl) and acetaminophen (Tylenol) will be provided before each Rituxan dose.
  5. After four months, the steps will be repeated for the opposite leg.
  6. Follow up continues for 520 days.

The study site is at the Clinical and Translational Research Building (CTRB) and the  University of Florida. Map.

Samantha Norman, MPH, BS  |  352-273-8218  |  [email protected]
Manuela Corti, PT, PhD  |  352-294-5779  |  [email protected]

University of Florida
Lacerta Therapeutics, Inc
Audentes Therapeutics

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