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Purpose

The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid 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.

Conditions

Eligibility

Eligible Ages
Over 18 Years
Eligible Genders
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • 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.

Exclusion Criteria

  • 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.

Study Design

Phase
N/A
Study Type
Interventional
Allocation
N/A
Intervention Model
Single Group Assignment
Primary Purpose
Screening
Masking
None (Open Label)

Arm Groups

ArmDescriptionAssigned Intervention
Other
Participants with Late Onset Pompe disease 		This is a multi-center, low-interventional study with a retrospective component in participants with LOPD. During a single study visit, assessments including but not limited to, liver health, neutralizing antibodies to SPK-3006 capsid and GAA, anti-GAA binding antibodies, GAA activity and GAA antigen levels will be performed. Additional information will be collected to provide retrospective evaluations relating to muscle and liver inflammation and/or injury. Historic data relating to Pompe disease will be collected from medical records. The retrospective and laboratory data collected may assist in providing baseline information for a future investigational gene therapy study.
  • Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid
    Collected during a single study visit to establish the occurrence of neutralizing antibodies to SPK-3006 capsid in participants with LOPD on an enzyme replacement regimen.

More Details

Status
Completed
Sponsor
Spark Therapeutics, Inc.

Study Contact

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.