Personalized Antisense Oligonucleotide for Batten Disease

Age: Any Age
Sex: Any
Trial Phase: Phase 1 & 2
Sponsor: n-Lorem Foundation
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new treatment for Batten Disease, specifically targeting a rare form that begins in childhood and involves brain deterioration. The treatment uses a personalized antisense oligonucleotide, a type of genetic medicine, designed to target a specific genetic mutation causing this condition. As an open-label trial, all participants receive the experimental drug, nL-UBTF-001. The trial seeks individuals with genetically confirmed Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a specific gene mutation who can travel for study visits. As a Phase 1, Phase 2 trial, this research focuses on understanding how the treatment works in people and measuring its effectiveness in an initial, smaller group.

Do I have to stop taking my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study team or your doctor.

Is there any evidence suggesting that nL-UBTF-001 is likely to be safe for humans?

Research shows that certain treatments, such as nL-UBTF-001, are under investigation as potential options for Batten disease, a serious brain disorder. Although specific safety data for nL-UBTF-001 is not yet available, similar treatments have demonstrated safety in other studies. For example, another treatment, Batten-1, was well-tolerated over 18 months. This suggests that these types of drugs can be safe for patients. However, this trial is in the early stages, focusing primarily on safety and determining the correct dose. The treatment is still being evaluated for side effects and patient tolerance. Participants should consider this when deciding to join the trial.12345

Why do researchers think this study treatment might be promising for Batten Disease?

Unlike current treatments for Batten disease, which mainly focus on managing symptoms and slowing progression, nL-UBTF-001 offers a more targeted approach by using a personalized antisense oligonucleotide. This innovative approach aims to directly modify the genetic instructions causing the disease, potentially addressing the root cause rather than just alleviating symptoms. Researchers are excited about this treatment because it represents a shift towards precision medicine, which could lead to more effective and individualized therapies for patients with this rare and challenging condition.

What evidence suggests that nL-UBTF-001 might be an effective treatment for Batten Disease?

Research has shown that treatments like nL-UBTF-001, which participants in this trial will receive, may help manage Batten disease. A recent study reported a 32% drop in a marker called neurofilament light chain (NfL), indicating reduced nerve cell damage. This suggests the treatment might slow the disease's progression. Additionally, the study found that patients' conditions remained stable over a year. These findings suggest the treatment could effectively reduce symptoms and prevent further damage.16789

Are You a Good Fit for This Trial?

This trial is for a single child diagnosed with Batten disease (specifically CONDBA) caused by a specific UBTF gene mutation. The participant must have this exact genetic change to be eligible.

Inclusion Criteria

I have CONDBA caused by a UBTF gene mutation.
Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s)
Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records

Exclusion Criteria

Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Administration of personalized antisense oligonucleotide (ASO) treatment

24 months
Regular assessments at 6, 12, 18, and 24 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

24 months
Home gait video assessments and MRI scans

What Are the Treatments Tested in This Trial?

Interventions

  • nL-UBTF-001

Trial Overview

The study is testing a personalized antisense oligonucleotide drug called nL-UBTF-001, designed specifically for the participant's unique UBTF gene mutation. Only one person will receive this treatment.

How Is the Trial Designed?

1

Treatment groups

Experimental Treatment

Group I: Open LabelExperimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

n-Lorem Foundation

Lead Sponsor

Trials
5
Recruited
5+

Massachusetts General Hospital

Collaborator

Trials
3,066
Recruited
13,430,000+

Citations

Batten disease: an expert update on agents in preclinical and ...

The Neuronal Ceroid Lipofuscinoses (NCLs; Batten disease) are a group of rare inherited fatal diseases that are characterized by the buildup of autoflorescent ...

Highly Promising 12-month results in the Phase I/II trial of ...

The new results, achieved after 12 months of treatment, show an average 32% decline in neurofilament light chain (NfL) levels in patient serum ( ...

Neuronal Ceroid Lipofuscinosis

The main aim of this review is to summarize the current state-of-art in the field of childhood Neuronal Ceroid Lipofuscinosis (NCL), ...

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Neuronal ceroid lipofuscinoses (NCLs), or Batten disease, are a group of devastating and lethal neurodegenerative lysosomal storage diseases that typically ...

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In CLN2 models. editing efficiencies were high and 17–70% of normal TPP1 enzyme activity was restored. This treatment also restored full-length ...

Theranexus Announces Positive Data on Efficacy and ...

The 18-month safety and efficacy data confirm the 12-month results announced in September 2023. Batten-1 presented a good safety profile.

New Insights into Batten Disease CLN1 from a Patient ...

There is currently no FDA approved treatment for Batten disease CLN1, a rapidly progressive, fatal, and rare pediatric neurodegenerative disease ...

Study Details | NCT01873924 | Clinical and ...

This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and ...

Neuronal Ceroid Lipofuscinosis NGS Panel

This panel may be appropriate for anyone with a personal or family history of neuronal ceroid lipofuscinosis.