Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
- Conditions
- Lysosomal Storage DiseasesGlycogen Storage Disease Type 2LOPDPompe DiseasePompe Disease (Late-onset)Acid Maltase Deficiency
- Interventions
- Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid
- 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
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 61
- 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.
- 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
- Arm && Interventions
Group Intervention Description Participants with Late Onset Pompe disease Neutralizing Antibody to SPK-3006 capsid 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.
- 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)
Klinikum der Universität München
🇩🇪München, Germany
University of Minnesota Medical School
🇺🇸Minneapolis, Minnesota, United States
University of Pittsburgh Medical Center
🇺🇸Pittsburgh, Pennsylvania, United States
Universita degli Studi di Milano - Clinica Oculistica I
🇮🇹Milano, Italy
Barrow Neurological Institute
🇺🇸Phoenix, Arizona, United States
University of California Irvine Health
🇺🇸Orange, California, United States
Oregon Health & Science University
🇺🇸Portland, Oregon, United States
Hôpital Raymond-Poincaré
🇫🇷Garches, Hauts-de-Seine, France
Assistance Publique Hôpitaux de Marseille
🇫🇷Marseille, France
Università degli Studi di Messina
🇮🇹Messina, Italy
Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
🇮🇹Pavia, Italy
CHU Nice
🇫🇷Nice, France
Università degli Studi di Napoli Federico II
🇮🇹Napoli, Italy
Azienda Ospedaliero Universitaria Pisana
🇮🇹Pisa, Italy
Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
🇮🇹Torino, Italy
Erasmus University Medical Center
🇳🇱Rotterdam, Netherlands
Salford Royal NHS Foundation Trust
🇬🇧Salford, United Kingdom
University of Kansas Medical Center
🇺🇸Kansas City, Kansas, United States