Summary

Eligibility
for people ages 18 years and up (full criteria)
Location
at Orange, California and other locations
Dates
study started
estimated completion
Principal Investigator
Tahseen Mozaffar, MD
Photo of Tahseen Mozaffar
Tahseen Mozaffar

Description

Summary

The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.

Official Title

A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

Keywords

Pompe Disease Pompe Disease (Late-onset) Glycogen Storage Disease Type 2 LOPD Lysosomal Storage Diseases Acid Maltase Deficiency Glycogen Storage Disease Type II Glycogen Storage Disease Metabolic Diseases Antibodies Antibodies, Blocking SPK-3006 Neutralizing Antibody

Eligibility

You can join if…

Open to people ages 18 years and up

  • Provide written informed consent and authorization to use protected health information in accordance with national and local privacy regulations
  • Male or females ≥18 years of age
  • Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening
  • Documented history of clinically moderate late-onset Pompe disease.

You CAN'T join if...

  • History of HIV infection
  • Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright
  • Previously received SPK-3006
  • Previously dosed with any investigational or approved gene therapy product at any time or treated with an investigational drug within the last 12 weeks (vaccination studies are accepted)
  • Any concurrent clinically significant condition that would not allow the potential participant to complete the Day 1 examinations, or other condition that, in the opinion of the Investigator and/or Sponsor, makes the subject unsuitable for participation in the study
  • Unable or unwilling to comply with the schedule of visits and/or study assessments described in the clinical protocol.

Locations

  • University of California Irvine Health
    Orange California 92868 United States
  • Barrow Neurological Institute
    Phoenix Arizona 85013 United States

Lead Scientist at UC Irvine

  • Tahseen Mozaffar, MD
    Clinical Professor, Neurology. Authored (or co-authored) 105 research publications.

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Spark Therapeutics
ID
NCT03893240
Study Type
Interventional
Last Updated