Principal Investigator: Nicola Longo
Keywords: Pompe , Audentes TX Department: Pediatric Genetics
IRB Number: 00131563
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Jenny  Billy

Brief Summary

This study will help to increase the understanding of prevalence of preexisting neutralizing antibodies against Adeno Associated Virus 8 AAV8 in subjects with LOPD.(late-onset Pompe Disease).

Objectives: To characterize the occurrence of neutralizing antibodies to AAV8 in subjects with LOPD.(late-onset Pompe Disease). The AAV8 vector will be used in the future for gene therapy. This project will explore which proportion of the target population that will be treated (patients with late-onset Pompe Disease) has preexisting antibodies that could prevent administration of gene therapy. 

Inclusion Criteria

1. Provides written informed consent
2. Male or female ≥ 18 years (ambulatory or nonambulatory)
3. Documented clinical diagnosis of Pompe disease
4. Subject is enzyme replacement therapy (ERT) naïve or has received ERT with recombinant human acid alpha glucosidase (rhGAA) for the previous ≥ 2 years.
5. For subjects on ERT: Have been on a stable standard dose (at least 20 mg/kg every 2 weeks) of ERT with rhGAA for at least the previous 6 months.
6. Willing to comply with study procedures during the single study visit

Exclusion Criteria

1. Previously received AAV8 product
2. Currently participating in an interventional study or has received gene or cell therapy
3. Requires any invasive ventilation (other than bilevel positive airway pressure [BiPAP] at night) or noninvasive ventilation while awake and upright
4. Has historical serological or viral load evidence of HIV-1, HIV-2, hepatitis B virus (HBV), or hepatitis C virus (HCV) 5. Has an active viral infection based on clinical observation
6. Has a history of or concurrent medical condition other than Pompe disease that could jeopardize safety of the subject or impact study results, as assessed by the investigator