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

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

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.

Study Overview

• Status: Completed
• Conditions: Lysosomal Storage Diseases; Glycogen Storage Disease Type 2; Pompe Disease (Late-onset); Pompe Disease; LOPD; Acid Maltase Deficiency
• Intervention / Treatment: Diagnostic test: Neutralizing Antibody to SPK-3006 capsid

• Study Type: Interventional
• Enrollment (Actual): 61
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Marseille, France, 13385
    • Assistance Publique Hopitaux de Marseille
  • Nice, France, 06001
    • CHU Nice
  • Hauts-de-Seine
    • Garches, Hauts-de-Seine, France, 92380
      • Hôpital Raymond-Poincaré
• Germany
  • München, Germany, 80333
    • Klinikum der Universität München
• Italy
  • Messina, Italy, 98125
    • Universita degli Studi di Messina
  • Milano, Italy, 20122
    • Universita degli Studi di Milano - Clinica Oculistica I
  • Napoli, Italy, 80131
    • Università degli Studi di Napoli Federico II
  • Pavia, Italy, 27100
    • Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
  • Pisa, Italy, 56126
    • Azienda Ospedaliero Universitaria Pisana
  • Torino, Italy, 10126
    • Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
• Netherlands
  • Rotterdam, Netherlands, 3015 CE
    • Erasmus University Medical Center
• United Kingdom
  • Salford, United Kingdom, M6 8HD
    • Salford Royal NHS Foundation Trust
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85013
      • Barrow Neurological Institute
  • California
    • Orange, California, United States, 92868
      • University of California Irvine Health
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • University of Kansas Medical Center
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota Medical School
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health & Science University
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • University of Pittsburgh Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

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.

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Spark Therapeutics

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2019
• Primary Completion (Actual): October 27, 2020
• Study Completion (Actual): October 27, 2020

Study Registration Dates

• First Submitted: March 11, 2019
• First Submitted That Met QC Criteria: March 26, 2019
• First Posted (Actual): March 28, 2019

Study Record Updates

• Last Update Posted (Actual): March 24, 2023
• Last Update Submitted That Met QC Criteria: March 23, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Metabolic Diseases; Lysosomal Storage Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease; Physiological Effects of Drugs; Immunologic Factors; Antibodies; Antibodies, Blocking
• Other Study ID Numbers: SPK-GAA-100

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No