Pompe Disease (Late-onset)NCT06150820
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
A study of Pompe Disease (Late-onset), run by Astellas Gene Therapies at 53 sites in 11 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 to 69 years
- Conditions the study is for
- Pompe Disease (Late-onset)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 119 participants
- Where
- 53 sitesin 11 countries
- Study dates
- 1 Feb 2024to 30 Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 69 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
53 sites in 11 countries.
53 sites in 11 countries
United States10 sites
University of Michigan
Ann Arbor, Michigan, 48109
Emory Clinic
Atlanta, Georgia, 30322
University of Cincinnati
Cincinnati, Ohio, 45221
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
Fairfax, Virginia, 22030
Hackensack University Medical Center
Hackensack, New Jersey, 07601
University of Kansas Medical Center
Kansas City, Kansas, 66160
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, 55404
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213
University of UTAH - PPDS
Salt Lake City, Utah, 84132
Italy9 sites
IT39002
Florence
IT39005
Gussago
IT39012
Messina
IT39009
Milan
IT39011
Milan
IT39008
Pavia
IT39006
Pisa
IT39004
Roma
IT39003
Udine
France8 sites
FR33006
Angers
FR33009
Garches
FR33005
Lille
FR33007
Limoges
FR33002
Marseille
FR33003
Nantes
FR33004
Nice
FR33001
Strasbourg
Spain7 sites
ES34003
Albacete
ES34004
Barcelona
ES34009
Donostia / San Sebastian
ES34007
L'Hospitalet de Llobregat
ES34001
Madrid
ES34005
Madrid
ES34002
Valencia
United Kingdom3 sites
UK44003
Cambridge
UK44001
Newcastle upon Tyne
UK44004
Salford
Japan2 sites
National Center of Neurology and Psychiatry
Kodaira-Shi
Tokyo Women's Medical University Hospital
Shinjuku-Ku
About this study
Official title: A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease
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.
Read more
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.
Read the 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.
- Conditions
- Pompe Disease (Late-onset)
- Being tested
- No Intervention
- Keywords
- Pompe Disease (Late-onset), Antibodies to AAV8, Biomarkers
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No investigational drug will be administered to participants in this study.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Late-Onset Pompe Disease | Other | Adolescent or adult participants with LOPD. Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Occurrence of total antibodies to AAV8
Antibodies to AAV8 will be recorded from serum blood samples collected.
Measured: Up to 2 years
Occurrence of neutralizing antibodies to AAV8
Antibodies to AAV8 will be recorded from serum blood samples collected.
Measured: Up to 2 years
Secondary outcomes (4)
Seroconversion of antibodies to AAV8 over time
Seroconversion of antibodies to AAV8 will be recorded from serum blood samples collected.
Measured: Up to 2 years
Creatine kinase [CK] levels
CK levels will be recorded from blood plasma samples collected.
Measured: Up to 2 years
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
Glc4/Hex4 will be recorded from urine samples collected.
Measured: Up to 2 years
Occurrence of anti-GAA antibodies in participants on ERT
Anti-GAA antibodies will be recorded from serum blood samples collected.
Measured: Up to 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Nov 2023
- Study start1 Feb 2024
- Primary completion30 Jun 2027 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe Disease (Late-onset)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 119 participants (actual)
Sponsor and investigators
- Lead sponsor
- Astellas Gene Therapies
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Astellas Gene Therapies
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06150820
- Sponsor's protocol ID
- AT845-02
- Status last verified
- Oct 2026
- First submitted
- 21 Nov 2023
- Last updated
- 8 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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/.
Study at a glance
From the registry record, last updated by the sponsor on 8 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease
- ClinicalTrials.gov ID
- NCT06150820
- Acronym / sponsor ID
- AT845-02
- Conditions
- Pompe Disease (Late-onset)
- Keywords
- Pompe Disease (Late-onset), Antibodies to AAV8, Biomarkers
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 119 participants (actual)
- Lead sponsor
- Astellas Gene TherapiesIndustry (pharma, biotech, devices)
- Study start
- 1 Feb 2024 (actual)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 29 Nov 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Late-Onset Pompe Disease | Other | Other: No InterventionAdolescent or adult participants with LOPD. |
Who may qualify
- Ages
- 16 to 69 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionNo investigational drug will be administered to participants in this study. | Other | Participants with Late-Onset Pompe Disease |
Primary outcome
Occurrence of total antibodies to AAV8
Time frame: Up to 2 years
Antibodies to AAV8 will be recorded from serum blood samples collected.
Occurrence of neutralizing antibodies to AAV8
Time frame: Up to 2 years
Antibodies to AAV8 will be recorded from serum blood samples collected.
4 secondary outcomes
Seroconversion of antibodies to AAV8 over time
Time frame: Up to 2 years
Creatine kinase [CK] levels
Time frame: Up to 2 years
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
Time frame: Up to 2 years
Occurrence of anti-GAA antibodies in participants on ERT
Time frame: Up to 2 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Oct 2026.
- Individual participant dataSharing planned: No. 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/.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Astellas Gene Therapies
53 sites in 11 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study of Pompe Disease (Late-onset), run by Astellas Gene Therapies at 53 sites in 11 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 8 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 53 sites in United States, Italy, France, Spain, Germany and 6 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Occurrence of total antibodies to AAV8 (time frame: Up to 2 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Oct 2026.