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

Primary Purpose

Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2

Status
Completed
Phase
Not Applicable
Locations
International
Study Type
Interventional
Intervention
Neutralizing Antibody to SPK-3006 capsid
Sponsored by
Spark Therapeutics
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional screening trial for Pompe Disease

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • Barrow Neurological Institute
  • University of California Irvine Health
  • University of Kansas Medical Center
  • University of Minnesota Medical School
  • Oregon Health & Science University
  • University of Pittsburgh Medical Center
  • Hôpital Raymond-Poincaré
  • Assistance Publique Hôpitaux de Marseille
  • CHU Nice
  • Klinikum der Universität München
  • Università degli Studi di Messina
  • Universita degli Studi di Milano - Clinica Oculistica I
  • Università degli Studi di Napoli Federico II
  • Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
  • Azienda Ospedaliero Universitaria Pisana
  • Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
  • Erasmus University Medical Center
  • Salford Royal NHS Foundation Trust

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

Participants with Late Onset Pompe disease

Arm Description

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.

Outcomes

Primary Outcome Measures

Neutralizing Antibodies Titer to SPK-3006 capsid
The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.
Occurrence of Neutralizing Antibodies to SPK-3006 capsid
The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.

Secondary Outcome Measures

Anti-GAA binding antibodies Titer
Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
Occurrence of Anti-GAA binding antibodies across participants
The proportion of participants who have Anti-GAA binding antibodies.
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.
Occurrence of Neutralizing antibodies to circulating GAA
The proportion of participants who have neutralizing antibodies to circulating GAA.
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.
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.

Full Information

First Posted
March 11, 2019
Last Updated
March 23, 2023
Sponsor
Spark Therapeutics
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1. Study Identification

Unique Protocol Identification Number
NCT03893240
Brief Title
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
Official Title
A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
Study Type
Interventional

2. Study Status

Record Verification Date
March 2023
Overall Recruitment Status
Completed
Study Start Date
June 12, 2019 (Actual)
Primary Completion Date
October 27, 2020 (Actual)
Study Completion Date
October 27, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Spark Therapeutics

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency

7. Study Design

Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
61 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Participants with Late Onset Pompe disease
Arm Type
Other
Arm Description
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.
Intervention Type
Diagnostic Test
Intervention Name(s)
Neutralizing Antibody to SPK-3006 capsid
Intervention Description
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.
Primary Outcome Measure Information:
Title
Neutralizing Antibodies Titer to SPK-3006 capsid
Description
The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit.
Time Frame
1 day
Title
Occurrence of Neutralizing Antibodies to SPK-3006 capsid
Description
The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid.
Time Frame
1 day
Secondary Outcome Measure Information:
Title
Anti-GAA binding antibodies Titer
Description
Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
Time Frame
1 day
Title
Occurrence of Anti-GAA binding antibodies across participants
Description
The proportion of participants who have Anti-GAA binding antibodies.
Time Frame
1 day
Title
Neutralizing antibodies to circulating GAA Titer
Description
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.
Time Frame
1 day
Title
Occurrence of Neutralizing antibodies to circulating GAA
Description
The proportion of participants who have neutralizing antibodies to circulating GAA.
Time Frame
1 day
Title
GAA activity level
Description
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.
Time Frame
1 day
Title
GAA antigen level
Description
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.
Time Frame
1 day

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Tahseen Mozaffar, MD
Organizational Affiliation
University of California Irvine Health
Official's Role
Principal Investigator
Facility Information:
Facility Name
Barrow Neurological Institute
City
Phoenix
State/Province
Arizona
ZIP/Postal Code
85013
Country
United States
Facility Name
University of California Irvine Health
City
Orange
State/Province
California
ZIP/Postal Code
92868
Country
United States
Facility Name
University of Kansas Medical Center
City
Kansas City
State/Province
Kansas
ZIP/Postal Code
66160
Country
United States
Facility Name
University of Minnesota Medical School
City
Minneapolis
State/Province
Minnesota
ZIP/Postal Code
55455
Country
United States
Facility Name
Oregon Health & Science University
City
Portland
State/Province
Oregon
ZIP/Postal Code
97239
Country
United States
Facility Name
University of Pittsburgh Medical Center
City
Pittsburgh
State/Province
Pennsylvania
ZIP/Postal Code
15213
Country
United States
Facility Name
Hôpital Raymond-Poincaré
City
Garches
State/Province
Hauts-de-Seine
ZIP/Postal Code
92380
Country
France
Facility Name
Assistance Publique Hôpitaux de Marseille
City
Marseille
ZIP/Postal Code
13385
Country
France
Facility Name
CHU Nice
City
Nice
ZIP/Postal Code
06001
Country
France
Facility Name
Klinikum der Universität München
City
München
ZIP/Postal Code
80333
Country
Germany
Facility Name
Università degli Studi di Messina
City
Messina
ZIP/Postal Code
98125
Country
Italy
Facility Name
Universita degli Studi di Milano - Clinica Oculistica I
City
Milano
ZIP/Postal Code
20122
Country
Italy
Facility Name
Università degli Studi di Napoli Federico II
City
Napoli
ZIP/Postal Code
80131
Country
Italy
Facility Name
Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
City
Pavia
ZIP/Postal Code
27100
Country
Italy
Facility Name
Azienda Ospedaliero Universitaria Pisana
City
Pisa
ZIP/Postal Code
56126
Country
Italy
Facility Name
Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
City
Torino
ZIP/Postal Code
10126
Country
Italy
Facility Name
Erasmus University Medical Center
City
Rotterdam
ZIP/Postal Code
3015 CE
Country
Netherlands
Facility Name
Salford Royal NHS Foundation Trust
City
Salford
ZIP/Postal Code
M6 8HD
Country
United Kingdom

12. IPD Sharing Statement

Plan to Share IPD
No

Learn more about this trial

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

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