Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2
About this trial
This is an interventional screening trial for Pompe Disease
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.
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
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.