What side effects are associated with this type of intervention?

Gene therapy for Neuronal Ceroid Lipofuscinosis (NCL) involves the introduction, removal, or alteration of genetic material to treat or prevent the disease. Common side effects of gene therapy can include immune reactions, where the body's immune system attacks the introduced viral vectors, leading to inflammation and other immune responses. There may also be risks of insertional mutagenesis, where the integration of new genetic material disrupts existing genes, potentially causing cancer or other genetic disorders. Additionally, patients might experience mild to moderate side effects such as fever, headache, and fatigue following the treatment.

What prior FDA approvals exist?

The FDA has approved cerliponase alfa (Brineura) for the treatment of a specific form of Neuronal Ceroid Lipofuscinosis, specifically CLN2 disease. Brineura is an enzyme replacement therapy, not a gene therapy. Currently, gene therapy approaches for NCL, such as the one being studied in the trial for CLN5 Batten Disease, are still in experimental stages. These therapies aim to introduce, remove, or alter genetic material to treat or prevent the disease, but none have yet received FDA approval.

What other types of research exist?

As of 2024, promising novel alternatives to gene therapy for Neuronal Ceroid Lipofuscinosis (NCL) include the use of enzyme replacement therapies, small molecule drugs, and antisense oligonucleotides. These approaches aim to address the underlying biochemical deficiencies or genetic mutations associated with NCL without directly altering the genetic material.

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Gene Therapy

Gene Therapy for Batten Disease (CLN5-200 Trial)

Phase 1 & 2

Waitlist Available

Research Sponsored by Neurogene Inc.

Eligibility Criteria Checklist

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

Must have

Molecular genetic diagnosis of the CLN5 gene

Impaired motor and/or language function and/or impaired visual acuity

Must not have

Known pathogenic or clinically suspected variant in a seizure associated genetic mutation besides CLN5

Any anticipated need for major surgery in the next 24 months

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 5 years (multiple visits)

Awards & highlights

No Placebo-Only Group

Summary

This trial tests a gene therapy that uses a harmless virus to deliver a healthy gene to children with a rare genetic disorder affecting their nervous system. The virus helps replace the faulty gene causing the disease.

Who is the study for?

This trial is for children aged 3 to 9 with a confirmed genetic diagnosis of CLN5 Batten Disease who can walk (with or without help) and comply with study procedures like MRI scans. They must not have been in another drug study recently, have certain infections or allergies, need major surgery soon, or be on ventilatory support.

What is being tested?

The trial tests NGN-101 gene therapy in a single dose escalation format. It's an open-label study where all participants receive the treatment. The aim is to see how different doses are tolerated and how effective they are against CLN5 Batten Disease symptoms.

What are the potential side effects?

Potential side effects may include reactions related to the immune system due to gene therapy, discomfort from procedures required by the trial such as lumbar puncture or MRI under sedation/anesthesia, and general risks associated with gene therapies.

Eligibility Criteria

Inclusion Criteria

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

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My condition is due to a CLN5 gene mutation.

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I have difficulties with movement, speaking, or seeing clearly.

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I am between 3 and 9 years old.

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I have been diagnosed with CLN5 disease.

Exclusion Criteria

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

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I have a genetic mutation linked to seizures, not including CLN5.

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I do not expect to need major surgery in the next 2 years.

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I have not received any vaccines in the last 45 days.

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I do not have any health issues that prevent me from undergoing procedures like spinal taps or using anesthesia.

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I haven't had chemotherapy, radiotherapy, or immunosuppressive therapy in the last 3 months.

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I am allergic to the drugs used in the immunosuppression treatment.

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I do not have any health conditions that prevent eye injections.

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I need a machine to help me breathe during the day or night.

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I am not taking any medications that are not allowed in the study.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 5 years (multiple visits)

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~5 years (multiple visits)

This trial's timeline: 3 weeks for screening, Varies for treatment, and 5 years (multiple visits) for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Incidence of Serious Adverse Events (SAEs)

Incidence of Treatment Emergent Adverse Events (TEAEs)

Incidence of clinical laboratory abnormalities

+2 more

Secondary study objectives

Change in Caregiver global impression of change

Change in Hamburg Scale, Motor and Language domain scores

Change in Spectral Domain-Optical Coherence Tomography (SD-OCT)

+3 more

Awards & Highlights

No Placebo-Only Group

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

Trial Design

3Treatment groups

Experimental Treatment

Group I: Cohort 3Experimental Treatment1 Intervention

The study treatment is a higher dose of recombinant serotype 9 adeno-associated virus encoding a codon- optimized human CLN5 transgene (hCLN5opt).

Group II: Cohort 2Experimental Treatment1 Intervention

The study treatment is a higher dose of recombinant serotype 9 adeno-associated virus encoding a codon-optimized human CLN5 transgene (hCLN5opt).

Group III: Cohort 1Experimental Treatment1 Intervention

The study treatment is a recombinant serotype 9 adeno-associated virus encoding a codon-optimized human CLN5 transgene (hCLN5opt).

0 / 13Eligibility 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 Neuronal Ceroid Lipofuscinosis (NCL) involves the introduction, removal, or alteration of genetic material to correct the underlying genetic defects causing the disease. This approach aims to restore the function of deficient enzymes or proteins that are crucial for cellular health. For instance, in CLN5 Batten disease, gene therapy introduces a functional copy of the defective gene to produce the necessary enzyme, thereby reducing the accumulation of toxic substances in cells. This is particularly important for NCL patients as it addresses the root cause of the disease, potentially halting or reversing the progression of neurodegeneration and improving quality of life.

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses.Gene therapy: prospects for glycolipid storage diseases.