What is the mechanism of action of this treatment?

Pompe Disease treatments primarily focus on addressing the deficiency of the enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) involves regular infusions of recombinant GAA to help reduce glycogen accumulation in cells. Gene therapy, like SPK-3006, aims to deliver a functional copy of the GAA gene to the patient's cells, enabling endogenous production of the enzyme. This could potentially reduce treatment frequency and enhance efficacy, significantly improving the quality of life for Pompe Disease patients.

What side effects are associated with this type of intervention?

The most common treatment for Pompe Disease is enzyme replacement therapy (ERT), which can cause side effects such as infusion-related reactions, including fever, chills, rash, and respiratory issues. Gene therapy, like SPK-3006, aims to deliver a functional copy of the gene encoding the deficient enzyme. Known side effects of gene therapy can include immune responses to the viral vector used for gene delivery, liver enzyme elevations, and potential long-term risks such as insertional mutagenesis. Patients should discuss these potential risks with their healthcare provider to make an informed decision.

What prior FDA approvals exist?

The FDA has approved enzyme replacement therapies (ERT) for the treatment of Pompe Disease, such as alglucosidase alfa (Myozyme and Lumizyme), which provide the deficient enzyme acid alpha-glucosidase (GAA) to patients. These treatments help reduce glycogen accumulation in cells. As of now, there are no FDA-approved gene therapies specifically for Pompe Disease. SPK-3006, currently under study, represents a novel approach by aiming to deliver a functional copy of the gene encoding the deficient enzyme, potentially offering a long-term solution compared to the existing ERT options.

What other types of research exist?

Promising alternatives to SPK-3006 for Pompe Disease patients include: 1) Next-generation enzyme replacement therapies (ERT) that offer improved delivery and efficacy, such as avalglucosidase alfa. 2) Gene editing technologies like CRISPR/Cas9 that aim to correct the genetic defect at its source. 3) Small molecule chaperones that stabilize the deficient enzyme, enhancing its activity and reducing the need for frequent ERT infusions. Patients should discuss these options with their healthcare provider to determine the best course of action based on the latest research and individual health needs.

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Gene Therapy

Gene Transfer for Pompe Disease

Phase 1 & 2

Waitlist Available

Led By Tahseen Mozaffar, MD

Research Sponsored by Spark Therapeutics, Inc.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Males and Females ≥18 years of age with late-onset Pompe disease

Have clinically moderate, late-onset Pompe disease characteristics

Must not have

Active hepatitis B and/or C

Received any prior vector or gene transfer agent

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 5 years

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing a new treatment called SPK-3006 for adults with late-onset Pompe disease who are already on enzyme replacement therapy. The treatment involves an infusion that delivers a gene to help produce a missing enzyme. The goal is to see if this new approach is safe and effective.

Who is the study for?

Adults over 18 with moderate, late-onset Pompe disease who've been on enzyme replacement therapy (ERT) for at least 2 years can join. They must not be pregnant or nursing, have no active infections including hepatitis B/C and HIV, no history of liver cancer or significant liver disease, and agree to use contraception.

What is being tested?

The trial is testing SPK-3006's safety and effectiveness in adults with Pompe disease. It involves a single intravenous dose of the gene therapy drug given to different groups one after another at increasing dose levels while they continue their regular ERT.

What are the potential side effects?

Specific side effects are not listed but generally may include reactions related to infusion such as discomfort or pain at the injection site, potential immune responses to the treatment like fever or chills, and other unforeseen complications due to genetic nature of therapy.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am 18 or older with late-onset Pompe disease.

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I have moderate, late-onset Pompe disease.

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I have been on enzyme replacement therapy for at least 2 years.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have active hepatitis B or C.

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I have received gene therapy before.

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I need help with breathing either through a machine or a mask when I'm awake.

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I am HIV positive.

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I have an active cancer other than non-melanoma skin cancer.

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I do not have any active infections.

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I have had liver cancer in the past.

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I have a serious liver condition.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 5 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 5 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 5 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Number of adverse and serious adverse events (AEs/SAEs), including clinically significant abnormal laboratory values.

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: SPK-3006Experimental Treatment1 Intervention

All participants who meet the eligibility criteria will receive a single intravenous (i.v.) administration of SPK-3006.

0 / 11Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Pompe Disease treatments primarily focus on addressing the deficiency of the enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) involves regular infusions of recombinant GAA to help reduce glycogen accumulation in cells. Gene therapy, like SPK-3006, aims to deliver a functional copy of the GAA gene to the patient's cells, enabling endogenous production of the enzyme. This could potentially reduce treatment frequency and enhance efficacy, significantly improving the quality of life for Pompe Disease patients.