RecruitingRare disease

Study on the Safety and Effects of SPK-3006 for Adults with Late-Onset Pompe Disease

InvestigationalNo placebo

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying Pompe Disease, also known as glycogen storage disease type II. This is a rare genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar used for energy. The study will use a treatment called SPK-3006, which is a solution for infusion. This treatment involves a single intravenous infusion, meaning it is administered directly into the bloodstream through a vein. The active substance in SPK-3006 is called vanglusagene ensiparvovec, which is a specially designed viral vector that helps deliver a gene to produce a necessary enzyme in the body.

The purpose of the study is to evaluate the safety and tolerability of SPK-3006 in adults with late-onset Pompe Disease. Participants will receive a single dose of the treatment, and the study will gradually increase the dose levels to observe how the body responds. The study will monitor participants for any adverse effects, changes in vital signs, and immune responses. It will also assess how well the treatment works by measuring changes in physical abilities, such as walking distance, and lung function.

Throughout the study, researchers will collect information on the levels of the enzyme produced by the treatment and any signs of muscle injury or glycogen buildup. The study aims to provide valuable insights into the potential benefits and risks of SPK-3006 for individuals with late-onset Pompe Disease. Participants will be closely monitored to ensure their safety and to gather comprehensive data on the treatment's effects.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial assessment
The study begins with an initial assessment to confirm eligibility. This includes a review of medical history and a physical examination.
Participants must have a confirmed diagnosis of late-onset Pompe disease (LOPD) and meet specific health criteria, such as the ability to walk a certain distance and specific lung function measurements.
Step 2
Pre-treatment phase
Before receiving the treatment, participants undergo a series of tests to establish baseline health data. This includes walking tests and lung function tests.
Participants must agree to use reliable contraception and refrain from certain types of donations after receiving the treatment.
Step 3
Treatment administration
Participants receive a single intravenous infusion of SPK-3006, which is a solution administered directly into the bloodstream.
The dosage is adjusted based on the study's dose-escalation design, which means the amount given may vary to assess safety and tolerability.
Step 4
Post-treatment monitoring
After the infusion, participants are monitored for any adverse effects or changes in health. This includes regular check-ups and laboratory tests.
The study tracks changes in walking ability, lung function, and other health markers over time.
Step 5
Long-term follow-up
Participants continue to be monitored for several years to assess the long-term effects of the treatment.
Regular assessments are conducted to evaluate the safety and effectiveness of the treatment, including immune responses and enzyme levels.

Who can join the trial?

8 criteria

Be able to understand the purpose and risks of the study and provide signed and dated informed consent, which means agreeing to participate after understanding the details and risks involved.
Be male or female and at least 18 years old with a confirmed diagnosis of **LOPD** (Late-Onset Pompe Disease), which can be confirmed through genetic testing or a documented deficiency of the **GAA enzyme**.
Have been receiving a marketed **ERT** (Enzyme Replacement Therapy) for at least the past 24 months and have maintained a stable dose and schedule for the past 6 months without any changes.
Have clinically moderate **LOPD** characteristics, which include:
Being able to walk at least 75 meters but less than 500 meters in a test called the **6MWT** (6-Minute Walk Test), with the help of devices if needed, and showing less than 10% difference in two assessments before starting certain medications.
Having a **% predicted FVC** (Forced Vital Capacity) between 30% and 80% when standing up, which is a measure of lung function.
Agree to use reliable birth control methods for at least 6 months after receiving the study medication or 12 weeks after the last dose of certain medications, whichever is longer, and until it is confirmed that the study medication is no longer present in the semen. Female participants who can become pregnant must have a negative pregnancy test before starting certain medications and on the day of receiving the study medication.
Agree not to donate blood, plasma, platelets, eggs, sperm, or organs after receiving the study medication.

Who cannot join the trial?

4 criteria

Participants who do not have a diagnosis of Pompe Disease, which is also known as glycogen storage disease type II, cannot participate.
Participants who are not within the age range specified for the study cannot participate. The study is for adults only.
Participants who are not considered to have clinically moderate symptoms of Late-Onset Pompe Disease (LOPD) cannot participate. This means their symptoms should not be too mild or too severe.
Participants who are part of a vulnerable population, such as those who cannot give consent or are in a dependent relationship with the study staff, cannot participate.

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Investigated drugs

SPK-3006 is an experimental treatment being studied for its safety and effectiveness in adults with Late-Onset Pompe Disease (LOPD). It is given as a single intravenous infusion, meaning it is delivered directly into the bloodstream through a vein. The study aims to find out how well people tolerate this treatment and to observe any potential benefits or side effects.

Vanglusagene Ensiparvovec

What is already known about the treatment

SPK-3006 – This medication is administered as a single intravenous infusion. It is currently being studied in clinical trials, specifically in a Phase 1/2 study, to assess its safety, tolerability, and efficacy for treating adults with late-onset Pompe Disease. The main therapeutic indication for SPK-3006 is Pompe Disease, a genetic disorder that affects muscle function. At the molecular level, SPK-3006 is designed to address the underlying enzyme deficiency in Pompe Disease by delivering a functional copy of the gene responsible for producing the enzyme. It falls under the pharmacological classification of gene therapy.

Investigated diseases

Pompe Disease – Pompe Disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by the buildup of glycogen in the body's cells. This occurs due to a deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen into glucose. The disease primarily affects the muscles, leading to progressive muscle weakness and respiratory difficulties. Symptoms can vary widely, ranging from severe forms in infants to milder forms in adults. Over time, individuals may experience increasing difficulty with mobility and breathing. The progression of the disease can vary, with some experiencing rapid decline while others have a slower progression.