A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
- Conditions
- Pompe Disease (Late-onset)
- Interventions
- Other: No Intervention
- Registration Number
- NCT06150820
- Lead Sponsor
- Astellas Gene Therapies
- 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.
- Detailed Description
No investigational drug will be administered to participants in this study. Blood and urine will be collected as part of the study. The duration of the study is approximately 2 years, participants may withdraw at any time.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 100
- 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.
- 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.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Participants with Late-Onset Pompe Disease No Intervention Adolescent or adult participants with LOPD.
- Primary Outcome Measures
Name Time Method Occurrence of total antibodies to AAV8 Up to 2 years Antibodies to AAV8 will be recorded from serum blood samples collected.
Occurrence of neutralizing antibodies to AAV8 Up to 2 years Antibodies to AAV8 will be recorded from serum blood samples collected.
- Secondary Outcome Measures
Name Time Method Seroconversion of antibodies to AAV8 over time Up to 2 years Seroconversion of antibodies to AAV8 will be recorded from serum blood samples collected.
Creatine kinase [CK] levels Up to 2 years CK levels will be recorded from blood plasma samples collected.
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time Up to 2 years Glc4/Hex4 will be recorded from urine samples collected.
Occurrence of anti-GAA antibodies in participants on ERT Up to 2 years Anti-GAA antibodies will be recorded from serum blood samples collected.
Trial Locations
- Locations (51)
DT49006
🇩🇪Münster, Germany
IT39006
🇮🇹Pisa, Italy
FR33003
🇫🇷Nantes, France
FR33004
🇫🇷Nice Cedex 3, France
FR33001
🇫🇷Strasbourg, France
DT49005
🇩🇪Bonn, Germany
DT49004
🇩🇪Essen, Germany
DT49003
🇩🇪Hochheim, Germany
IT39002
🇮🇹Firenze, Italy
IT39005
🇮🇹Gussago, Italy
IT39012
🇮🇹Messina, Italy
IT39009
🇮🇹Milano, Italy
IT39011
🇮🇹Milano, Italy
IT39008
🇮🇹Pavia, Italy
IT39004
🇮🇹Roma, Italy
University of California Irvine
🇺🇸Irvine, California, United States
Emory Clinic
🇺🇸Atlanta, Georgia, United States
University of Kansas Medical Center
🇺🇸Kansas City, Kansas, United States
University of Michigan
🇺🇸Ann Arbor, Michigan, United States
Children's Hospitals and Clinics of Minnesota
🇺🇸Minneapolis, Minnesota, United States
Hackensack University Medical Center
🇺🇸Hackensack, New Jersey, United States
University of Cincinnati
🇺🇸Cincinnati, Ohio, United States
University of Pennsylvania
🇺🇸Philadelphia, Pennsylvania, United States
University of Pittsburgh Medical Center
🇺🇸Pittsburgh, Pennsylvania, United States
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
🇺🇸Fairfax, Virginia, United States
AU61003
🇦🇺Adelaide, Australia
AU61001
🇦🇺Herston, Australia
BR55002
🇧🇷Porto Alegre, Brazil
CN15003
🇨🇦Edmonton, Canada
CA15001
🇨🇦Montreal, Canada
FR33006
🇫🇷Angers, France
FR33009
🇫🇷Garches, France
FR33005
🇫🇷Lille, France
FR33007
🇫🇷Limoges, France
FR33002
🇫🇷Marseille, France
National Center of Neurology and Psychiatry
🇯🇵Kodaira-Shi, Japan
Tokyo Women's Medical University Hospital
🇯🇵Shinjuku-Ku, Japan
ES34003
🇪🇸Albacete, Spain
ES34004
🇪🇸Barcelona, Spain
ES34006
🇪🇸Barcelona, Spain
ES34007
🇪🇸L'hospitalet de Llobregat, Spain
ES34001
🇪🇸Madrid, Spain
ES34005
🇪🇸Madrid, Spain
ES34009
🇪🇸San Sebastian, Spain
ES34002
🇪🇸Valencia, Spain
TW88601
🇨🇳Taipei, Taiwan
TW88602
🇨🇳Taipei, Taiwan
TW88603
🇨🇳Taoyuan City, Taiwan
UK44003
🇬🇧Cambridge, United Kingdom
UK44001
🇬🇧Newcastle upon Tyne, United Kingdom
UK44004
🇬🇧Salford, United Kingdom