What side effects are associated with this type of intervention?

Common treatments for Batten Disease, particularly those similar to Miglustat, include enzyme replacement therapies and small molecule inhibitors like Miglustat itself. Miglustat, which reduces glycosphingolipid accumulation, can cause side effects such as gastrointestinal disturbances (diarrhea, abdominal pain), weight loss, and tremors. Enzyme replacement therapies may lead to infusion-related reactions, including fever, chills, and allergic reactions. Overall, while these treatments can help manage symptoms, they often come with significant side effects that need to be monitored closely.

What prior FDA approvals exist?

The FDA has approved cerliponase alfa (Brineura) for the treatment of Batten Disease, specifically for CLN2 disease. Brineura is an enzyme replacement therapy that helps to slow the progression of the disease by replacing the deficient enzyme. While not directly similar to Miglustat, which inhibits glucosylceramide synthase, Brineura represents a significant advancement in the treatment of Batten Disease. Other treatments are still under investigation, including those targeting glycosphingolipid accumulation.

What other types of research exist?

Promising alternatives to Miglustat for Batten Disease patients include gene therapy approaches targeting the CLN3 gene, enzyme replacement therapies, and small molecule drugs that can cross the blood-brain barrier to address lysosomal storage dysfunction. Specific examples include therapies under investigation such as AAV-based gene therapy and novel small molecules designed to enhance lysosomal function or reduce neuroinflammation.

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Glucosylceramide Synthase Inhibitor

Miglustat for Batten Disease

Phase 1 & 2

Waitlist Available

Research Sponsored by Beyond Batten Disease Foundation

Eligibility Criteria Checklist

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

Must have

Male and female participants must use a highly effective method of contraception and must continue for the duration of the trial (and for 30 days after the end of treatment).

Have genetically confirmed diagnosis of syndromic CLN3 disease with specified mutation criteria

Must not have

Use of any therapy intended to modify the course of any neuronal ceroid lipofuscinosis disease, including but not limited to flupirtine or flupirtine derivatives, cerliponase alfa (Brineura)

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 78 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing the safety and effectiveness of a medication called miglustat, which is taken by mouth. It aims to help people aged 17 and older who have CLN3 disease. Miglustat works by reducing the buildup of harmful substances in the body. Miglustat has been used effectively for treating Gaucher's disease and Niemann-Pick disease type C, showing potential in reducing neurological symptoms and being well-tolerated.

Who is the study for?

This trial is for individuals aged 17 or older with genetically confirmed CLN3 disease, a form of Batten Disease. Participants must be able to perform study tasks and visit the clinic as needed. They should agree to use effective contraception during the trial and for a month after it ends.

What is being tested?

The study tests Miglustat's safety, how it's processed in the body (pharmacokinetics), and effectiveness in treating CLN3 disease at doses from 100 mg once daily up to 200 mg three times daily over two years across two centers.

What are the potential side effects?

Potential side effects of Miglustat may include stomach discomfort, diarrhea, weight loss, tremors, and numbness. These are based on known side effects but could vary among participants.

Eligibility Criteria

Inclusion Criteria

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

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I am using or willing to use effective birth control during and for 30 days after the trial.

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My CLN3 disease is confirmed through genetic testing.

Exclusion Criteria

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

Select...

I have not used treatments like flupirtine or Brineura for neuronal ceroid lipofuscinosis.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 78 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~78 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and 78 weeks 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 participants with treatment-related adverse events as assessed by CTCAE v5.0

Secondary study objectives

Clinical efficacy based on UBDRS score

Clinical efficacy based on Vineland score

Clinical efficacy with ophtalmic assessment

+2 more

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: Oral miglustatExperimental Treatment1 Intervention

The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID)

0 / 3Eligibility 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

The most common treatments for Batten Disease, such as Miglustat, work by inhibiting enzymes involved in the synthesis of glycosphingolipids, thereby reducing their accumulation in cells. This is crucial for Batten Disease patients because the excessive buildup of these lipids in neurons leads to cell dysfunction and death, contributing to the progressive neurodegeneration characteristic of the disease. By reducing glycosphingolipid accumulation, these treatments aim to slow disease progression, preserve neuronal function, and improve quality of life for patients.