A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease
1 other identifier
interventional
119
11 countries
53
Brief Summary
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA). This enzyme breaks down a type of sugar called glycogen. Without this enzyme, there is a build-up of glycogen in the cells of the body. This causes muscle weakness and other symptoms. Pompe disease can happen at any age, but in late-onset Pompe disease, symptoms generally start from 12 months old onwards. The standard treatment for people with Pompe disease is to receive regular infusions of the GAA enzyme. This is known as enzyme replacement therapy. However, people can build up antibodies against the GAA enzyme over time. Gene therapy is used to treat conditions caused by a faulty gene. It works by replacing the faulty gene with a working gene inside the cells of the body. The working gene is delivered into the cells using certain viruses as carriers (vectors). Viruses are often used as carriers as they can easily get inside cells. The genetic material of the original virus is replaced with the working gene, so only the working gene gets inside the cells. A common virus used as a carrier in gene therapy is the adeno-associated virus (or AAV). This is like an adenovirus, which causes the common cold. The original type of AAV does not cause any harm to humans. However, people that have previously been infected with the original type of AAV may have built up antibodies against AAV. These antibodies may stop the AAV carrier with the working gene getting inside the cells. Researchers want to learn more about antibody levels against AAV and the GAA enzyme in people with late-onset Pompe disease. They also want to learn about other substances in the blood that provide more information about late-onset Pompe disease. These are known as biomarkers. In this study, older teenagers and adults with late-onset Pompe disease will take part. They will not have had gene therapy using AAV. There will be 2 groups - those who have never had enzyme replacement therapy, and those who have had enzyme replacement therapy for 6 months or more. No study treatment will be given during the study, but blood and urine samples will be taken for testing. The main aims of the study are to check antibody levels against AAV8 (a type of AAV) in people with late-onset Pompe disease who had not received any treatment using AAV, to check antibody levels against the GAA enzyme in people previously treated with GAA as part of enzyme replacement therapy, to check levels of biomarkers for Pompe disease, and to check for medical problems. In the study, people will visit the study clinic several times. Some visits may be in the person's home. The first visit is to check if they can take part. Those who can take part will have a medical examination, and have their vital signs checked. Vital signs include blood pressure, heart rate, breathing rate and temperature. Blood samples will be taken to check antibody levels against the GAA enzyme and against AAV8. Blood and urine samples will also be taken to check for biomarkers for Pompe disease. Blood and urine samples will be taken about every 4 months for up to 2 years.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Feb 2024
Longer than P75 for not_applicable
53 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 21, 2023
CompletedFirst Posted
Study publicly available on registry
November 29, 2023
CompletedStudy Start
First participant enrolled
February 1, 2024
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 30, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 30, 2027
April 8, 2026
March 1, 2026
3.4 years
November 21, 2023
April 6, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Occurrence of total antibodies to AAV8
Antibodies to AAV8 will be recorded from serum blood samples collected.
Up to 2 years
Occurrence of neutralizing antibodies to AAV8
Antibodies to AAV8 will be recorded from serum blood samples collected.
Up to 2 years
Secondary Outcomes (4)
Seroconversion of antibodies to AAV8 over time
Up to 2 years
Creatine kinase [CK] levels
Up to 2 years
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
Up to 2 years
Occurrence of anti-GAA antibodies in participants on ERT
Up to 2 years
Study Arms (1)
Participants with Late-Onset Pompe Disease
OTHERAdolescent or adult participants with LOPD.
Interventions
No investigational drug will be administered to participants in this study.
Eligibility Criteria
You may qualify if:
- Participant has a documented clinical diagnosis of LOPD.
- Participant is enzyme replacement therapy ERT-naïve (ERT-N) or if the participant is currently taking an approved ERT treatment or is participating in an ERT-interventional study, the ERT must have been received for at least 6 months or more (ERT-experienced \[ERT-E\]).
- Participant is willing and able to comply with study visits and procedures.
- Participant agrees to not start participating in any other clinical study involving an investigational study treatment, including ERT, while participating in this study.
You may not qualify if:
- Participant previously received an AAV-related product (any serotype).
- Participant is currently participating in a Pompe-related interventional study (other than ERT-interventional studies) or has received gene or cell therapy.
- Participant requires any invasive or noninvasive ventilation support while awake and upright (non-invasive support while sleeping with either continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) is acceptable for eligibility).
- Participant is unable to ambulate (assistive devices \[e.g., cane or walker\] are acceptable for eligibility).
- Participants who have received any ERT for less than 6 months as of the Baseline visit are not eligible.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (53)
Emory Clinic
Atlanta, Georgia, 30322, United States
University of Kansas Medical Center
Kansas City, Kansas, 66160, United States
University of Michigan
Ann Arbor, Michigan, 48109, United States
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, 55404, United States
Hackensack University Medical Center
Hackensack, New Jersey, 07601, United States
University of Cincinnati
Cincinnati, Ohio, 45221, United States
University of Pennsylvania
Philadelphia, Pennsylvania, 19104, United States
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213, United States
University of UTAH - PPDS
Salt Lake City, Utah, 84132, United States
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
Fairfax, Virginia, 22030, United States
AU61003
Adelaide, Australia
AU61001
Herston, Australia
BR55003
Flamengo, Brazil
BR55002
Porto Alegre, Brazil
BR55001
São Paulo, Brazil
CN15003
Edmonton, Canada
CA15001
Montreal, Canada
FR33006
Angers, France
FR33009
Garches, France
FR33005
Lille, France
FR33007
Limoges, France
FR33002
Marseille, France
FR33003
Nantes, France
FR33004
Nice, France
FR33001
Strasbourg, France
DT49005
Bonn, Germany
DT49004
Essen, Germany
DT49003
Höchheim, Germany
DT49006
Münster, Germany
IT39002
Florence, Italy
IT39005
Gussago, Italy
IT39012
Messina, Italy
IT39009
Milan, Italy
IT39011
Milan, Italy
IT39008
Pavia, Italy
IT39006
Pisa, Italy
IT39004
Roma, Italy
IT39003
Udine, Italy
National Center of Neurology and Psychiatry
Kodaira-Shi, Japan
Tokyo Women's Medical University Hospital
Shinjuku-Ku, Japan
ES34003
Albacete, Spain
ES34004
Barcelona, Spain
ES34009
Donostia / San Sebastian, Spain
ES34007
L'Hospitalet de Llobregat, Spain
ES34001
Madrid, Spain
ES34005
Madrid, Spain
ES34002
Valencia, Spain
TW88601
Taipei, Taiwan
TW88602
Taipei, Taiwan
TW88603
Taoyuan, Taiwan
UK44003
Cambridge, United Kingdom
UK44001
Newcastle upon Tyne, United Kingdom
UK44004
Salford, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Medical Director
Astellas Gene Therapies
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- OTHER
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 21, 2023
First Posted
November 29, 2023
Study Start
February 1, 2024
Primary Completion (Estimated)
June 30, 2027
Study Completion (Estimated)
June 30, 2027
Last Updated
April 8, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will not share
Access to anonymized individual participant level data will not be provided for this trial. Further details on Astellas' data sharing policy can be found at https://www.clinicaltrials.astellas.com/transparency/.