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

Purpose

The purpose of this research study is to test the safety of administration and re-administration of the acid alpha-glucosidase (GAA) gene into muscle. This is the first time this gene transfer agent has ever been tested in human subjects.

Procedures

If you decide to participate in this study, you will be randomly assigned, much like the flip of a coin, to receive either the gene therapy or placebo first to the right leg and four months later to the opposite leg.

Eligibility

  • 18-50 years old
  • 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 residual ability to complete the 10-meter walk test
  • Willing to discontinue aspirin, aspirin-containing products and other drugs that may alter platelet function, 7 days prior to dosing, resuming 24 hours after the dose has been administered
  • Consistently taking enzyme replacement therapy (ERT) or remain off ERT from baseline until Day 520
  • United States residents only.

For additional study information, please contact Samatha Norman: 

Age

18 to 65

Gender

Male
Female

Monetary compensation

Yes

Can be done from home

No

Keywords

Pompe Disease, Neurology

Principal Investigator

Manuela Corti, PT, PhD

Department

Neurology

Contact Information

samantha.norman@peds.ufl.edu

(352) 273-8218


Be an Informed Participant

Before deciding to participate in a research study, take time to learn about clinical research, how it's conducted and your rights as a research participant. Following are some helpful resources from independent sources. Always remember that a clinical research study is research, not treatment.

Know Who to Contact

  • Eligibility: For questions about a specific study and who is eligible to participate, call or email the contact person listed for that study.
  • Your Rights: For questions about your rights as a research participant, contact the UF Institutional Review Boards at 352-273-9600.
  • Feedback: For general questions or feedback about study listings, email the UF Clinical and Translational Science Institute at CTSI-Studies-L@lists.ufl.edu.

Other Resources

  • HealthStreet: Health-focused services, classes and events, and opportunities to participate in research.
  • ResearchMatch.org: Join a national registry of volunteers willing to be contacted about research studies.

For Research Teams