Pompe’s Disease (Acid Maltase Deficiency) - Healing Genes

Pompe’s Disease (Acid Maltase Deficiency)

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AAV2/8-LSPhGAA in Late-Onset Pompe Disease

A Phase 1 Study of the Safety of AAV2/8-LSPhGAA in Late-onset Pompe Disease

Phase 1


Doctors at Duke University in Durham, NC, are investigating a treatment for Pompe Disease, or Acid Maltase Deficiency (AMD). The therapy involves a single injection of a genetically engineered adenovirus to target liver cells, transferring to them a synthetic version of the acid α-glucosidase (GAA) gene. This replacement gene, mutated in Pompe’s patients, can produce the correct protein and is intended to restore normal metabolic function, improve quality of life, and increase chances of survival.

A single infusion of the drug at one of 2 dosages is required, with follow up for 1 year. The virus utilized is engineered not to cause disease in the patients.


  • Be 18 years of age or older
  • Diagnosis of Pompe disease by blood or skin fibroblast GAA assay and two pathogenic variants in the GAA gen
  • Not have Invasive ventilation required or noninvasive ventilation required while awake and upright.
  • Meet additional screening requirements and willing to use contraception during and for 6 months after the trial


  1. Prescreening tests to confirm eligibility of the patient to participate.
  2. A single intravenous administration of the trial drug
  3. Follow up at 12 months and possibly more often in that year


The study site is at Duke University in Durham, NC. Map.


Dwight Koeberl, MD, PhD  |  919-684-2036  |  [email protected]



Actus Therapeutics, Inc.

Duke University

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)



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