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

Not Applicable

Completed

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

• Registration Number: NCT03893240
• Lead Sponsor: Spark Therapeutics, Inc.

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 available

Study Timeline

• Study First Submitted: 2019-03-11
• Study First Submitted QC: 2019-03-26
• Study First Posted: 2019-03-28
• Study Start: 2019-06-12
• Primary Completion: 2020-10-27
• Study Completion: 2020-10-27
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-23
• Last Update Posted: 2023-03-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 61

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

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Neutralizing Antibodies Titer to SPK-3006 capsid	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	1 day	The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.

Secondary Outcome Measures

Name	Time	Method
Anti-GAA binding antibodies Titer	1 day	Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
GAA activity level	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.
Occurrence of Anti-GAA binding antibodies across participants	1 day	The proportion of participants who have Anti-GAA binding antibodies.
Neutralizing antibodies to circulating GAA Titer	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.
GAA antigen level	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.
Occurrence of Neutralizing antibodies to circulating GAA	1 day	The proportion of participants who have neutralizing antibodies to circulating GAA.

Trial Locations

Locations (18)

Barrow Neurological Institute; 🇺🇸 Phoenix, Arizona, United States

University of California Irvine Health; 🇺🇸 Orange, California, United States

University of Kansas Medical Center; 🇺🇸 Kansas City, Kansas, United States

University of Minnesota Medical School; 🇺🇸 Minneapolis, Minnesota, United States

Oregon Health & Science University; 🇺🇸 Portland, Oregon, United States

University of Pittsburgh Medical Center; 🇺🇸 Pittsburgh, Pennsylvania, United States

Hôpital Raymond-Poincaré; 🇫🇷 Garches, Hauts-de-Seine, France

Assistance Publique Hôpitaux de Marseille; 🇫🇷 Marseille, France

CHU Nice; 🇫🇷 Nice, France

Klinikum der Universität München; 🇩🇪 München, Germany

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