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

NCT03893240 | Completed

• 1 other identifier: SPK-GAA-100
• Study Type: interventional
• Target: 61
• Locations: 6 countries
• Sites: 18

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

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (6)

• Anti-GAA binding antibodies Titer

  1 day

• Occurrence of Anti-GAA binding antibodies across participants

  1 day

• Neutralizing antibodies to circulating GAA Titer

  1 day

• Occurrence of Neutralizing antibodies to circulating GAA

  1 day

• GAA activity level

  1 day

Study Arms (1)

Participants with Late Onset Pompe disease

OTHER

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

Interventions

Neutralizing Antibody to SPK-3006 capsid 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.

Participants with Late Onset Pompe disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Spark Therapeutics, Inc.: lead

Study Sites (18)

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

Location

University of California Irvine Health

Orange, California, 92868, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

University of Minnesota Medical School

Minneapolis, Minnesota, 55455, United States

Location

Oregon Health & Science University

Portland, Oregon, 97239, United States

Location

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15213, United States

Location

Hôpital Raymond-Poincaré

Garches, Hauts-de-Seine, 92380, France

Location

Assistance Publique Hôpitaux de Marseille

Marseille, 13385, France

Location

CHU Nice

Nice, 06001, France

Location

Klinikum der Universität München

München, 80333, Germany

Location

Università degli Studi di Messina

Messina, 98125, Italy

Location

Universita degli Studi di Milano - Clinica Oculistica I

Milan, 20122, Italy

Location

Università degli Studi di Napoli Federico II

Napoli, 80131, Italy

Location

Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico

Pavia, 27100, Italy

Location

Azienda Ospedaliero Universitaria Pisana

Pisa, 56126, Italy

Location

Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino

Torino, 10126, Italy

Location

Erasmus University Medical Center

Rotterdam, 3015 CE, Netherlands

Location

Salford Royal NHS Foundation Trust

Salford, M6 8HD, United Kingdom

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Lysosomal Storage Diseases

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Tahseen Mozaffar, MD

  University of California Irvine Health

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 11, 2019
• First Posted: March 28, 2019
• Study Start: June 12, 2019
• Primary Completion: October 27, 2020
• Study Completion: October 27, 2020
• Last Updated: March 24, 2023

Record last verified: 2023-03

Data Sharing

• IPD Sharing: Will not share

Locations

IT (6); GB (1); NL (1); FR (3); US (6); DE (1)