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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06150820




Registration number
NCT06150820
Ethics application status
Date submitted
21/11/2023
Date registered
29/11/2023
Date last updated
10/10/2024

Titles & IDs
Public title
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease
Scientific title
A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease
Secondary ID [1] 0 0
AT845-02
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Pompe Disease (Late-onset) 0 0
Condition category
Condition code
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Other interventions - No Intervention

Other: Participants with Late-Onset Pompe Disease - Adolescent or adult participants with LOPD.


Other interventions: No Intervention
No investigational drug will be administered to participants in this study.
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Occurrence of total antibodies to AAV8
Timepoint [1] 0 0
Up to 2 years
Primary outcome [2] 0 0
Occurrence of neutralizing antibodies to AAV8
Timepoint [2] 0 0
Up to 2 years
Secondary outcome [1] 0 0
Seroconversion of antibodies to AAV8 over time
Timepoint [1] 0 0
Up to 2 years
Secondary outcome [2] 0 0
Creatine kinase [CK] levels
Timepoint [2] 0 0
Up to 2 years
Secondary outcome [3] 0 0
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
Timepoint [3] 0 0
Up to 2 years
Secondary outcome [4] 0 0
Occurrence of anti-GAA antibodies in participants on ERT
Timepoint [4] 0 0
Up to 2 years

Eligibility
Key inclusion criteria
* Participant has a documented clinical diagnosis of LOPD.
* Participant is enzyme replacement therapy (ERT) naïve (ERT-N) or has received any ERT for 6 months or more (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.
Minimum age
16 Years
Maximum age
69 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
* 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
Purpose of the study
Other
Allocation to intervention
Not applicable
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Not applicable
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/02/2024
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/05/2027
Actual
Sample size
Target
100
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
AU61003 - Adelaide
Recruitment hospital [2] 0 0
AU61001 - Herston
Recruitment postcode(s) [1] 0 0
- Adelaide
Recruitment postcode(s) [2] 0 0
- Herston
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Michigan
Country [2] 0 0
United States of America
State/province [2] 0 0
Minnesota
Country [3] 0 0
United States of America
State/province [3] 0 0
Pennsylvania
Country [4] 0 0
United States of America
State/province [4] 0 0
Virginia
Country [5] 0 0
France
State/province [5] 0 0
Angers
Country [6] 0 0
France
State/province [6] 0 0
Garches
Country [7] 0 0
France
State/province [7] 0 0
Lille
Country [8] 0 0
France
State/province [8] 0 0
Limoges
Country [9] 0 0
France
State/province [9] 0 0
Marseille
Country [10] 0 0
France
State/province [10] 0 0
Nantes
Country [11] 0 0
France
State/province [11] 0 0
Nice Cedex 3
Country [12] 0 0
France
State/province [12] 0 0
Strasbourg
Country [13] 0 0
Germany
State/province [13] 0 0
Hochheim
Country [14] 0 0
Italy
State/province [14] 0 0
Firenze
Country [15] 0 0
Italy
State/province [15] 0 0
Gussago
Country [16] 0 0
Italy
State/province [16] 0 0
Roma
Country [17] 0 0
Japan
State/province [17] 0 0
Kodaira-Shi
Country [18] 0 0
Japan
State/province [18] 0 0
Shinjuku-Ku
Country [19] 0 0
Spain
State/province [19] 0 0
Albacete
Country [20] 0 0
Spain
State/province [20] 0 0
Barcelona
Country [21] 0 0
Spain
State/province [21] 0 0
L'hospitalet de Llobregat
Country [22] 0 0
Spain
State/province [22] 0 0
Madrid
Country [23] 0 0
Spain
State/province [23] 0 0
San Sebastian
Country [24] 0 0
Spain
State/province [24] 0 0
Valencia
Country [25] 0 0
Taiwan
State/province [25] 0 0
Taipei
Country [26] 0 0
Taiwan
State/province [26] 0 0
Taoyuan City
Country [27] 0 0
United Kingdom
State/province [27] 0 0
Newcastle upon Tyne
Country [28] 0 0
United Kingdom
State/province [28] 0 0
Salford

Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Name
Astellas Gene Therapies
Address
Country

Ethics approval
Ethics application status

Summary
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 website
https://clinicaltrials.gov/study/NCT06150820
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Medical Director
Address 0 0
Astellas Gene Therapies
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Astellas Gene Therapies
Address 0 0
Country 0 0
Phone 0 0
800-888-7704
Fax 0 0
Email 0 0
[email protected]
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/study/NCT06150820