Clinical trial NCT03893240: 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
Overall status: COMPLETED
Phase: NA
Conditions: Pompe Disease
Pompe Disease (Late-onset)
Glycogen Storage Disease Type 2
LOPD
Lysosomal Storage Diseases
Acid Maltase Deficiency
Lead sponsor: Spark Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2019-03-28
Enrollment: 61
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SCREENING

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.


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.

Primary outcomes:
measure: Neutralizing Antibodies Titer to SPK-3006 capsid
timeFrame: 1 day
measure: Occurrence of Neutralizing Antibodies to SPK-3006 capsid
timeFrame: 1 day
Secondary outcomes:
measure: Anti-GAA binding antibodies Titer
timeFrame: 1 day
measure: Occurrence of Anti-GAA binding antibodies across participants
timeFrame: 1 day
measure: Neutralizing antibodies to circulating GAA Titer
timeFrame: 1 day
measure: Occurrence of Neutralizing antibodies to circulating GAA
timeFrame: 1 day
measure: GAA activity level
timeFrame: 1 day
measure: GAA antigen level
timeFrame: 1 day
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Barrow Neurological Institute
state: Arizona
city: Orange
country: United States
facility: University of California Irvine Health
state: California
city: Kansas City
country: United States
facility: University of Kansas Medical Center
state: Kansas
city: Minneapolis
country: United States
facility: University of Minnesota Medical School
state: Minnesota
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center
state: Pennsylvania
city: Garches
country: France
facility: Hôpital Raymond-Poincaré
state: Hauts-de-Seine
city: Marseille
country: France
facility: Assistance Publique Hôpitaux de Marseille
city: Nice
country: France
facility: CHU Nice
city: München
country: Germany
facility: Klinikum der Universität München
city: Messina
country: Italy
facility: Università degli Studi di Messina
city: Milano
country: Italy
facility: Universita degli Studi di Milano - Clinica Oculistica I
city: Napoli
country: Italy
facility: Università degli Studi di Napoli Federico II
city: Pavia
country: Italy
facility: Fondazione Mondino Istituto Neurologico Nazionale a Carattere Scientifico
city: Pisa
country: Italy
facility: Azienda Ospedaliero Universitaria Pisana
city: Torino
country: Italy
facility: Azienda Ospedaliera Universitaria Citta della Salute e della Scienza di Torino
city: Rotterdam
country: Netherlands
facility: Erasmus University Medical Center
city: Salford
country: United Kingdom
facility: Salford Royal NHS Foundation Trust
Study officials:
affiliation: University of California Irvine Health
name: Tahseen Mozaffar, MD
role: PRINCIPAL_INVESTIGATOR
References: