What is the mechanism of action of this treatment?

Gene therapy for Batten Disease, such as the AT-GTX-502 trial, involves using adeno-associated virus (AAV) vectors to deliver functional copies of defective genes directly to the patient's cells. This method aims to correct the genetic mutations responsible for the disease, thereby addressing the root cause rather than just alleviating symptoms. For Batten Disease patients, this is particularly important as it offers the potential to halt or significantly slow disease progression, improve neurological function, and enhance overall quality of life. By targeting the genetic basis of the disease, gene therapy holds promise for more effective and long-lasting treatment outcomes.

What side effects are associated with this type of intervention?

Gene therapy using AAV vectors, such as the one being studied for CLN3 Batten disease (AT-GTX-502), can have several side effects. Commonly reported side effects include immune responses to the vector, which can lead to inflammation and, in some cases, liver enzyme elevations. Other potential side effects include injection site reactions, headache, and mild flu-like symptoms. In rare cases, more severe immune reactions or unintended effects on non-target cells may occur. It is important for patients to discuss these potential risks with their healthcare provider.

What prior FDA approvals exist?

As of now, there are no FDA-approved gene therapies specifically for Batten Disease, including those using AAV vectors to deliver therapeutic genes. The AT-GTX-502 trial represents a novel approach in this area, aiming to treat CLN3 Batten Disease through intrathecal delivery of gene therapy. Other treatments for Batten Disease have primarily focused on symptom management rather than modifying the disease at a genetic level.

What other types of research exist?

Promising novel alternatives to AT-GTX-502 for treating CLN3 Batten disease include: 1) Enzyme replacement therapies that aim to supplement deficient enzymes in affected cells. 2) Small molecule therapies that enhance the clearance of mutant proteins or reduce their aggregation. 3) Other gene therapies using different vectors or delivery methods to correct the genetic defect. 4) RNA-targeted therapies such as antisense oligonucleotides or RNA interference to reduce the production of harmful proteins. Patients should discuss these options with their healthcare provider to determine the most appropriate treatment plan.

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Virus Therapy

Gene Therapy for Batten Disease

Phase 1 & 2

Waitlist Available

Research Sponsored by Amicus Therapeutics

Eligibility Criteria Checklist

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

Must have

Able to walk independently at least 50 feet

Aged ≥ 3 to < 11 years

Must not have

History of corneal or intraocular surgery

Has received stem cell or bone marrow transplantation

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 36 months

Awards & highlights

No Placebo-Only Group

Summary

This trial tests AT-GTX-502, a one-time injection into the lower spine, for children with CLN3 Batten disease. The treatment delivers a healthy gene to help correct the disease.

Who is the study for?

This trial is for children aged 3 to under 11 with CLN3 Batten disease, able to walk independently. They must have a specific diagnosis confirmed by an accredited lab and a low physical impairment score. Kids can't join if they've had recent immunosuppression therapy, other neurological issues, active infections, uncontrolled seizures, certain medical procedures or conditions that prevent MRI scans or lumbar punctures.

What is being tested?

The trial tests two doses of AT-GTX-502 gene therapy delivered into the spinal cord region for safety and effectiveness in treating CLN3 Batten disease. It's an early-stage study where all participants receive the treatment but at different dosage levels.

What are the potential side effects?

As this is an early-phase trial for gene therapy, potential side effects are not fully known but may include reactions related to intrathecal administration like headache or back pain, immune responses to the viral vector used in gene delivery, and possible inflammation.

Eligibility Criteria

Inclusion Criteria

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

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I can walk by myself for at least 50 feet.

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I am between 3 and 10 years old.

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I have been diagnosed with CLN3 Batten disease by a certified lab.

Exclusion Criteria

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

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I have had surgery on my eye or cornea.

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I have undergone a stem cell or bone marrow transplant.

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My anti-AAV9 antibody levels are low, as confirmed by a blood test.

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I have an immune system disorder.

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I am currently using cannabinoids or their by-products.

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My seizures are not well-controlled by medication.

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I don't have conditions like bleeding disorders that prevent spinal procedures.

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I have had an organ transplant.

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I do not have an active viral infection like HIV or hepatitis B or C.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 36 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~36 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and 36 months for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Efficacy: Change in rating as determined using the Unified Batten Disease Rating Scale (UBDRS) rating scale.

Safety evaluation based on the development of dose-limiting toxicity (DLT).

Secondary study objectives

Global impression: Change in disease severity using the UBDRS clinical global impression (CGI) subscale.

QOL: Change in Quality of Life (QOL) as determined using the Pediatric Quality of Life (PedsQL™) scale.

Seizures: Change is seizure subscore as determined using Seizure subscale of the UBDRS scale.

Awards & Highlights

No Placebo-Only Group

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

Trial Design

2Treatment groups

Experimental Treatment

Group I: Cohort 2: AT-GTX-502 High-DoseExperimental Treatment1 Intervention

No more than 10 mL of 1.2 x 1014 vg of AT-GTX-502 administered via intrathecal injection

Group II: Cohort 1: AT-GTX-502 Low-DoseExperimental Treatment1 Intervention

No more than 5 mL of 6 x 1013 vg AT-GTX-502 administered via intrathecal injection

0 / 12Eligibility 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

Gene therapy for Batten Disease, such as the AT-GTX-502 trial, involves using adeno-associated virus (AAV) vectors to deliver functional copies of defective genes directly to the patient's cells. This method aims to correct the genetic mutations responsible for the disease, thereby addressing the root cause rather than just alleviating symptoms. For Batten Disease patients, this is particularly important as it offers the potential to halt or significantly slow disease progression, improve neurological function, and enhance overall quality of life. By targeting the genetic basis of the disease, gene therapy holds promise for more effective and long-lasting treatment outcomes.

Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease.