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A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

RECRUITING

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.

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Study details:

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.

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Eligibility criteria

Researchers look for people who fit a certain description, called eligibility criteria. See if you qualify.

Inclusion criteria

  • 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.
  • 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.
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    Eligibility

    Age eligible for study : 16 and older

    Healthy volunteers accepted : No

    Gender eligible for study: All

    Things to know

    Study dates

    Study start: 2024-02-01

    Primary completion: 2027-05-31

    Study completion finish: 2027-05-31

    study type

    Study type

    OTHER

    phase

    Phase

      NA

    trial

    Trial ID

    NCT06150820

    Intervention or treatment

    OTHER: No Intervention

    Conditions

    • Pompe Disease (Late-onset)

    Find a site

    Closest Location:

    AU61003

    Research sites nearby

    Select from list below to view details:

    • AU61003

      Adelaide, Not Specified, Australia

    • AU61001

      Herston, Not Specified, Australia

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    Study Plan

    This section provides details of the study plan, including how the study is designed and what the study is measuring.

    How is the study designed?

    Participant Group/ArmIntervention/Treatment
    OTHER: Participants with Late-Onset Pompe Disease
    • Adolescent or adult participants with LOPD.
    OTHER: No Intervention
    • No investigational drug will be administered to participants in this study.

    What is the study measuring?

    Primary outcome

    Primary Outcome MeasurePrimary Outcome DescriptionPrimary Outcome Time Frame
    Occurrence of total antibodies to AAV8Antibodies to AAV8 will be recorded from serum blood samples collected.Up to 2 years
    Occurrence of neutralizing antibodies to AAV8Antibodies to AAV8 will be recorded from serum blood samples collected.Up to 2 years

    Secondary outcome

    Secondary Outcome MeasureSecondary Outcome DescriptionSecondary Outcome Time Frame
    Seroconversion of antibodies to AAV8 over timeSeroconversion of antibodies to AAV8 will be recorded from serum blood samples collected.Up to 2 years
    Creatine kinase [CK] levelsCK levels will be recorded from blood plasma samples collected.Up to 2 years
    Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over timeGlc4/Hex4 will be recorded from urine samples collected.Up to 2 years
    Occurrence of anti-GAA antibodies in participants on ERTAnti-GAA antibodies will be recorded from serum blood samples collected.Up to 2 years

    Frequently Asked Questions

    Please note: some questions and answers are submitted by anonymous patients or using AI, and have not been verified by Clinrol

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    References

    Clinical Trials Gov: A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

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