Ongoing, recruitingPhase I and Phase II (Integrated)- OtherInterventional

A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults with Glycogen Storage Disease Type Ia (GSDIa)

This study is investigating a new gene therapy, named Pariglasgene brecaparvovec, for adults living with Glycogen Storage Disease Type Ia (GSDIa). GSDIa is a rare genetic condition where the body has trouble breaking down stored sugar (glycogen) in the liver, leading to dangerously low blood sugar. This treatment uses a modified virus to deliver healthy genetic material into liver cells, hoping to correct the underlying problem. The main goal of this research is to carefully check for any side effects or serious reactions (safety). Researchers also want to see if this treatment can help participants maintain more stable blood sugar levels, especially during periods without food (efficacy). It’s a long-term follow-up study, meaning participants will be monitored over an extended period after receiving the treatment.

At a glance

Status

Ongoing, recruiting

Phase

Phase I and Phase II (Integrated)- Other

Sponsor

Ultragenyx Pharmaceutical Inc.

Enrolment target

Start

07 Feb 2024

Glycogen storage disease type Ia

What is this study about?

This research study is focused on a genetic condition called Glycogen Storage Disease Type Ia, often shortened to GSDIa. People with GSDIa have a problem with a specific gene that makes an important enzyme in the liver. This enzyme is crucial for breaking down a type of sugar called glycogen, which is how our bodies store energy. When this enzyme doesn't work properly, too much glycogen builds up in the liver, and the body can't release sugar into the blood when needed. This can lead to very low blood sugar levels, especially between meals or during the night, which can be dangerous.

The study is testing a new gene therapy called Pariglasgene brecaparvovec. Gene therapy is a cutting-edge approach that aims to correct the root cause of genetic diseases. In this case, the therapy uses a harmless virus, similar to those that cause the common cold but modified so it can't make you sick. This modified virus acts like a delivery truck, carrying a healthy copy of the missing gene directly into the liver cells. The hope is that once these liver cells have the healthy gene, they can start producing the needed enzyme, allowing the body to properly manage blood sugar.

This is a "Phase I and Phase II" study, which means it’s still in relatively early stages of testing in humans. The main purpose is to make sure the treatment is safe and well-tolerated. Researchers will be looking very closely for any side effects or unexpected reactions. Alongside safety, they also want to see if the treatment actually helps people with GSDIa, specifically by improving their ability to keep their blood sugar levels stable, especially during times when they haven’t eaten for a while. This is a long-term study, so participants will be followed for an extended period to understand the lasting effects of the treatment.

Key takeaways

This study is testing a new gene therapy for adults with GSDIa.
The therapy aims to help the liver manage blood sugar better.
Safety and effectiveness of the treatment will be closely monitored.
It's a long-term study, meaning follow-up will continue for an extended period.
Participants must be 18 years or older with a confirmed GSDIa diagnosis.

Who may be eligible?

To be part of this research, you must be an adult, meaning 18 years old or older. The study is open to both men and women.

Because this study is looking at a very specific genetic condition, you would need to have a confirmed diagnosis of Glycogen Storage Disease Type Ia (GSDIa) to be considered. It's important that your doctors can confirm this diagnosis based on specific medical tests.

There might be other health requirements or conditions that would prevent someone from joining, even if they meet these basic criteria. These are usually in place to ensure the safety of everyone taking part and to make sure the study results are clear. Your local study team would discuss all these details with you.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Have you been officially diagnosed with Glycogen Storage Disease Type Ia (GSDIa)?
Are you able to attend regular follow-up appointments?
Are you willing to learn about and potentially receive a new gene therapy?
Do you understand that this is a research study for an investigational treatment?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, the exact details will be explained thoroughly by the study team. Generally, you would receive the gene therapy treatment called Pariglasgene brecaparvovec, which is given through a drip into your vein (intravenously). This treatment is typically a one-time dose.

After receiving the treatment, you would have regular hospital visits for check-ups. These visits will involve various tests and assessments, such as blood tests, physical examinations, and potentially challenges to see how your body manages blood sugar after fasting. The main purpose of these check-ups is to monitor your health, look for any side effects, and see if the treatment is helping manage your GSDIa.

Since this is a long-term follow-up study, these visits will continue over an extended period, potentially for several years. The study team will provide a detailed schedule of visits and what each visit will involve, including any specific instructions you need to follow, such as dietary advice or medication routines.

Potential risks and benefits

Taking part in any medical study has potential benefits and risks. A potential benefit of this study is that the investigational gene therapy, Pariglasgene brecaparvovec, might help your body produce the missing enzyme, potentially improving your blood sugar control and the overall management of your GSDIa. However, there's no guarantee the treatment will work for you, and it might not provide any direct benefit. All new treatments carry risks, and side effects could range from mild, like fever or feeling tired, to more serious reactions requiring medical attention. The research team will explain all known and potential risks in detail. It’s important to remember that participating is completely voluntary, and you are free to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (2)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
Spain
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Unverified
Netherlands

Common questions

What is Glycogen Storage Disease Type Ia (GSDIa)?

It's a rare genetic condition where your liver can't properly break down stored sugar, leading to very low blood sugar levels.

What is gene therapy?

It's a new type of treatment that aims to fix a broken gene by delivering a healthy copy into your body's cells.

What is Pariglasgene brecaparvovec?

It's the specific gene therapy being tested in this study for GSDIa.

How will I receive the treatment?

It's given as a one-time treatment through a drip into your vein.

What are the main goals of the study?

Researchers want to see if the treatment is safe and if it helps control blood sugar in people with GSDIa.