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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)
Screening 3 weeks
Treatment Varies
Follow Up 78 weeks
Awards & highlights


This trial will study the safety and effectiveness of a new drug for a rare disease called CLN3 disease. The trial will last 104 weeks, and will involve 6 subjects at 2 different centers.

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.Check my eligibility
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.See study design
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
I am using or willing to use effective birth control during and for 30 days after the trial.
My CLN3 disease is confirmed through genetic testing.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
I have not used treatments like flupirtine or Brineura for neuronal ceroid lipofuscinosis.


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

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0
Secondary outcome measures
Clinical efficacy based on UBDRS score
Clinical efficacy based on Vineland score
Clinical efficacy with ophtalmic assessment
+2 more

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)

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.

Find a Location

Who is running the clinical trial?

TheranexusIndustry Sponsor
4 Previous Clinical Trials
300 Total Patients Enrolled
Beyond Batten Disease FoundationLead Sponsor
1 Previous Clinical Trials
20,000 Total Patients Enrolled

Media Library

Miglustat (Glucosylceramide Synthase Inhibitor) Clinical Trial Eligibility Overview. Trial Name: NCT05174039 — Phase 1 & 2
Batten Disease Research Study Groups: Oral miglustat
Batten Disease Clinical Trial 2023: Miglustat Highlights & Side Effects. Trial Name: NCT05174039 — Phase 1 & 2
Miglustat (Glucosylceramide Synthase Inhibitor) 2023 Treatment Timeline for Medical Study. Trial Name: NCT05174039 — Phase 1 & 2
~2 spots leftby Jul 2025