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

NCT ID: NCT03893240

Last Updated: 2023-03-24

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 61 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2019-06-12
• Study Completion Date: 2020-10-27

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.

Conditions

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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

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.

Group Type: OTHER

Neutralizing Antibody to SPK-3006 capsid

Intervention Type: DIAGNOSTIC_TEST

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.

Interventions

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.

Intervention Type: DIAGNOSTIC_TEST

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Spark Therapeutics, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Tahseen Mozaffar, MD

Role: PRINCIPAL_INVESTIGATOR

University of California Irvine Health

Locations

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

Università degli Studi di Messina

Messina, , Italy

Universita degli Studi di Milano - Clinica Oculistica I

Milan, , Italy

Università degli Studi di Napoli Federico II

Napoli, , Italy

Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico

Pavia, , 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

Countries

United States; France; Germany; Italy; Netherlands; United Kingdom

Other Identifiers

SPK-GAA-100

Identifier Type: -

Identifier Source: org_study_id