Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

• ClinicalTrials.gov Identifier: NCT03893240
• Recruitment Status: Completed
• First Posted: March 28, 2019
• Last Update Posted: March 24, 2023
• Sponsor: Spark Therapeutics
• Information provided by (Responsible Party): Spark Therapeutics

Tracking Information

• First Submitted Date: March 11, 2019
• First Posted Date: March 28, 2019
• Last Update Posted Date: March 24, 2023
• Actual Study Start Date: June 12, 2019
• Actual Primary Completion Date: October 27, 2020 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: August 25, 2020)

• Neutralizing Antibodies Titer to SPK-3006 capsid [ Time Frame: 1 day ]
  The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.
• Occurrence of Neutralizing Antibodies to SPK-3006 capsid [ Time Frame: 1 day ]
  The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.

Original Primary Outcome Measures (submitted: March 26, 2019)

• SPK-3006 Neutralizing Antibodies Titer [ Time Frame: 1 day ]
  The SPK-3006 neutralizing antibodies titer is measured once prospectively at one site visit.
• Occurrence of SPK-3006 Neutralizing Antibodies [ Time Frame: 1 day ]
  The proportion of participants who have Neutralizing Antibodies to SPK-3006.

Current Secondary Outcome Measures (submitted: March 26, 2019)

• Anti-GAA binding antibodies Titer [ Time Frame: 1 day ]
  Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
• Occurrence of Anti-GAA binding antibodies across participants [ Time Frame: 1 day ]
  The proportion of participants who have Anti-GAA binding antibodies.
• Neutralizing antibodies to circulating GAA Titer [ Time Frame: 1 day ]
  Neutralizing antibodies to circulating GAA titer is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.
• Occurrence of Neutralizing antibodies to circulating GAA [ Time Frame: 1 day ]
  The proportion of participants who have neutralizing antibodies to circulating GAA.
• GAA activity level [ Time Frame: 1 day ]
  GAA activity level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.
• GAA antigen level [ Time Frame: 1 day ]
  GAA antigen level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent.

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
• Official Title: A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
• Brief Summary: 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.
• Detailed Description: Not Provided
• Study Type: Interventional
• Study Phase: Not Applicable
• Study Design: Allocation: N/A; Intervention Model: Single Group Assignment; Masking: None (Open Label); Primary Purpose: Screening

Condition

• Pompe Disease
• Pompe Disease (Late-onset)
• Glycogen Storage Disease Type 2
• LOPD
• Lysosomal Storage Diseases
• Acid Maltase Deficiency

Intervention

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.

Study Arms

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.

Intervention: Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: July 14, 2021): 61
• Original Estimated Enrollment (submitted: March 26, 2019): 60
• Actual Study Completion Date: October 27, 2020
• Actual Primary Completion Date: October 27, 2020 (Final data collection date for primary outcome measure)

Eligibility Criteria

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.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: France, Germany, Italy, Netherlands, United Kingdom, United States

Administrative Information

• NCT Number: NCT03893240
• Other Study ID Numbers: SPK-GAA-100
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Spark Therapeutics
• Original Responsible Party: Same as current
• Current Study Sponsor: Spark Therapeutics
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Principal Investigator: Tahseen Mozaffar, MD; University of California Irvine Health

• PRS Account: Spark Therapeutics
• Verification Date: March 2023