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

Sponsor

Spark Therapeutics (Industry)

Overall Status

Completed

CT.gov ID

NCT03893240

Collaborator

(none)

Enrollment

Locations

Arm

16.5

Actual Duration (Months)

3.4

Patients Per Site

0.2

Patients Per Site Per Month

Study Details

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.

Condition or Disease	Intervention/Treatment	Phase
Pompe Disease Pompe Disease (Late-onset) Glycogen Storage Disease Type 2 LOPD Lysosomal Storage Diseases Acid Maltase Deficiency	Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid	N/A

Study Design

Study Type:

Interventional

Actual Enrollment :

61 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Screening

Official Title:

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

Actual Study Start Date :

Jun 12, 2019

Actual Primary Completion Date :

Oct 27, 2020

Actual Study Completion Date :

Oct 27, 2020

Arms and Interventions

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.

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.

Outcome Measures

Primary Outcome Measures

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

Anti-GAA binding antibodies Titer [1 day]
Anti-GAA binding antibodies titer is measured once prospectively at one site visit.
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.
Occurrence of Neutralizing antibodies to circulating GAA [1 day]
The proportion of participants who have neutralizing antibodies to circulating GAA.
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.
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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts 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.

Contacts and Locations

Locations

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