What side effects are associated with this type of intervention?

The most common side effects of enzyme replacement therapy with cerliponase alfa for Batten Disease include mild to moderate hypersensitivity reactions, such as fever, chills, and rash. Other potential side effects are mild lymphadenopathy and injection site reactions. In some cases, more severe reactions like anaphylaxis can occur, but these are rare. Regular monitoring and appropriate premedication can help manage these side effects.

What prior FDA approvals exist?

The FDA has approved Cerliponase Alfa (Brineura) for the treatment of Batten Disease, specifically for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Cerliponase Alfa is a recombinant human tripeptidyl peptidase 1 (TPP1) enzyme replacement therapy that helps slow the progression of the disease by supplementing the deficient enzyme in affected individuals. This approval marked a significant advancement in the treatment of Batten Disease, providing a targeted therapeutic option for managing this rare and debilitating condition.

What other types of research exist?

Promising novel alternatives to Cerliponase Alfa for Batten Disease patients include gene therapy approaches, such as adeno-associated virus (AAV) mediated gene transfer, which aims to deliver a functional copy of the TPP1 gene directly to the patient's cells. Additionally, small molecule drugs that enhance lysosomal function or reduce substrate accumulation are being explored. Clinical trials investigating these therapies are ongoing and may offer new treatment options in the near future.

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Enzyme Replacement Therapy

Intravitreal Cerliponase Alfa for Batten Disease

Phase 1 & 2

Waitlist Available

Led By David Rogers, MD

Research Sponsored by David L Rogers, MD

Eligibility Criteria Checklist

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

Must have

Minimum age requirement: 24 months of age at enrollment

Currently receiving intraventricular cerliponase alfa

Must not have

History of ocular trauma or prior ocular surgery

Those with a history of bleeding disorders

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 2 years

Awards & highlights

No Placebo-Only Group

Summary

This trial involves injecting a medication called cerliponase alfa directly into the eyes of 5 subjects. The goal is to see if this treatment is safe and effective over a period of time. The subjects will then be monitored periodically for an extended duration to collect more data.

Who is the study for?

This trial is for children aged 24 to 72 months with classical CLN2 Batten's disease, confirmed by a certified lab. They must have a specific retinal thickness, be deficient in an enzyme called tripeptidyl-peptidase, and already be receiving intraventricular cerliponase alfa. Kids can't join if they've had recent immunosuppression therapy, ocular trauma/surgery, severe infections or bleeding disorders.

What is being tested?

The trial tests the safety and effectiveness of injecting cerliponase alfa directly into the eye (intravitreal) to prevent worsening of retinal disease in kids with CLN2 Batten's disease. It's a phase I/II study where participants are randomly assigned and masked to treatment conditions.

What are the potential side effects?

Potential side effects aren't specified but may include typical reactions related to eye injections such as discomfort, redness, swelling at the injection site or inside the eye, increased intraocular pressure or temporary vision changes.

Eligibility Criteria

Inclusion Criteria

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

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I am at least 2 years old.

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I am currently being treated with cerliponase alfa.

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My CLN2 Batten's disease diagnosis was confirmed through genetic testing.

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I am 6 years old or younger.

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My eyes are clear and free from any cloudiness.

Exclusion Criteria

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

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I have had an eye injury or eye surgery in the past.

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I have a history of bleeding disorders.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 2 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~2 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 2 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

Monitoring for the development of unacceptable toxicity.

Secondary study objectives

Efficacy of intravitreal cerliponase alfa to stabilize fundoscopic features.

Efficacy of intravitreal cerliponase alfa to stabilize retinal architecture.

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: InterventionExperimental Treatment1 Intervention

0 / 7Eligibility 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

Enzyme replacement therapy (ERT) for Batten Disease, such as Cerliponase Alfa, involves administering a recombinant form of the deficient enzyme, in this case, tripeptidyl peptidase 1 (TPP1). This enzyme is crucial for breaking down certain proteins within lysosomes. In Batten Disease, mutations in the CLN2 gene lead to TPP1 deficiency, causing toxic accumulation of proteins and subsequent neurodegeneration. By providing the missing enzyme, ERT helps reduce this accumulation, potentially slowing disease progression and improving neurological function. This approach is significant for Batten Disease patients as it directly addresses the underlying enzyme deficiency, offering a targeted treatment that can mitigate some of the severe symptoms associated with the disease.

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.