Batten DiseasePhase 1/2NCT05174039
An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
A Phase 1/2 study testing Miglustat 100 milligrams (mg) Oral Capsule in people with Batten Disease, run by Beyond Batten Disease Foundation at 1 site in United States.
Trial summary
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects ≥ 17 years of age with CLN3 disease over a period of 104 weeks. Read more about this study
- Who is it for?
- Ages 17 years and older
- Conditions the study is for
- Batten Disease
- What is being tested?
- Miglustat 100 milligrams (mg) Oral Capsule
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Mar 2022to 30 May 2024
- Phase
- Phase 1/2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 17 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Individuals
- Have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate).
- Are males or females ≥ 17 years of age at the time of screening
- Have genetically confirmed diagnosis of syndromic CLN3 disease with
- EITHER:
- Two pathogenic mutations in the CLN3 gene, OR B. One confirmed pathogenic AND one variant of unknown significance, OR 2 variants of unknown significance, PLUS (+) secondary confirmation with evidence of characteristic inclusions on electron microscopy AND characteristic clinical course. There is no restriction on the specific CLN3 mutations for eligibility to enroll in the study. The mutations will be recorded in the electronic case report form (eCRF) for potential use in determining if CLN3 genotype is associated with tolerability and/or effectiveness of Beyond Batten Disease Foundation-1 (BBDF-1) (miglustat) therapy.
- 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).
- Are able to complete study assessments (subject or caregiver) and return to the clinic as scheduled
Who cannot join
- Individuals
- Have a medical condition that in the opinion of the PI would interfere with the safety assessments or increase the subject's risk of adverse events (AEs)
- Use of any therapy (approved, off-label, or unapproved) intended to modify the course of any neuronal ceroid lipofuscinosis disease, including but not limited to flupirtine or flupirtine derivatives, cerliponase alfa (Brineura)
- Have, in the opinion of the PI, a clinically significant abnormality in their clinical laboratory values (hematology, chemistry, or urinalysis) at screening that would preclude their participation in the study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects ≥ 17 years of age with CLN3 disease over a period of 104 weeks.
- Conditions
- Batten Disease
- Being tested
- Miglustat 100 milligrams (mg) Oral Capsule
- Keywords
- Batten disease, CLN3, treatment, miglustat, safety
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Miglustat 100 milligrams (mg) Oral CapsuleDrug
Subjects will initiate miglustat at Week 1 and dosing will be escalated until 600mg/d. If a subject has not reached the maximum dose (600 mg/d) by Week 8, the Week 8 dose will be subject's MTD.
| Study group | Role | What they receive |
|---|---|---|
| Oral miglustat | Experimental | The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID) Receives: Drug: Miglustat 100 milligrams (mg) Oral Capsule |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Treatment-emergent Adverse Events.
Number of treatment-emergent adverse events (TEAEs) assessed at all visits and phone calls, with severity classified according to CTCAE v5.0
Measured: 78 weeks
Secondary outcomes (6)
Miglustat Pharmacokinetic (PK) Parameter Cmax
Maximum plasma concentration Cmax
Measured: 8 weeks
Miglustat PK Parameter Tmax
Time of Maximum concentration observed T max
Measured: 8 weeks
Miglustat PK Parameter Area Under Curve (AUC)
Area under the plasma concentration versus time curve Area Under Curve from pre-administration to 8 hours post-administration (AUC0-8hour). Blood draws were taken at the following time points: pre-miglustat dose (0), 1, 2, 2.5, 3, 4, 6, and 8 hours after 8 weeks of treatment.
Measured: 8 weeks
Miglustat PK Parameter T1/2
Miglustat elimination half life T1/2
Measured: 8 weeks
Clinical Efficacy Based on Unified Batten Disease Rating Scale Subscores
Change from baseline of the modified Unified Batten Disease Rating Scale (UBDRS) Physical Assessment subscale (score from 0 to 112), specifically developed to assess motor symptoms in subjects with Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) disease. Higher scores indicate more severe disease.
Measured: 78 weeks
Clinical Efficacy With the Seizure Frequency
Seizure frequency were to be assessed using a seizure diary
Measured: 78 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Dec 2021
- Study start10 Mar 2022
- Primary completion30 May 2024
- Study completion30 May 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Batten DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beyond Batten Disease Foundation
- Sponsor type
- University, hospital or other
- Collaborators
- Theranexus
- Responsible party
- Sponsor
- Investigators
- Gary D. Clark, MD, Principal investigator, Texas Children HospitalAn N. Dang Do, MD, PhD, Principal investigator, National Institute of Health Clinical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05174039
- Sponsor's protocol ID
- Batten-1-01
- Status last verified
- Jul 2025
- First submitted
- 18 Nov 2021
- Last updated
- 9 Sep 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older
- ClinicalTrials.gov ID
- NCT05174039
- Acronym / sponsor ID
- Batten-1-01
- Conditions
- Batten Disease
- Keywords
- Batten disease, CLN3, treatment, miglustat, safety
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Beyond Batten Disease FoundationUniversity, hospital or other
- Collaborators
- Theranexus
- Study start
- 10 Mar 2022 (actual)
- Primary completion
- 30 May 2024 (actual)
- Study completion
- 30 May 2024 (actual)
- First posted
- 30 Dec 2021 (actual)
- Results
- Posted 9 Sep 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects ≥ 17 years of age with CLN3 disease over a period of 104 weeks.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Oral miglustat | Experimental | Drug: Miglustat 100 milligrams (mg) Oral CapsuleThe proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID) |
Who may qualify
- Ages
- 17 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- Individuals
- Have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate).
- Are males or females ≥ 17 years of age at the time of screening
- Have genetically confirmed diagnosis of syndromic CLN3 disease with
- 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).
Key exclusion criteria (4 listed)
- Individuals
- Have a medical condition that in the opinion of the PI would interfere with the safety assessments or increase the subject's risk of adverse events (AEs)
- Use of any therapy (approved, off-label, or unapproved) intended to modify the course of any neuronal ceroid lipofuscinosis disease, including but not limited to flupirtine or flupirtine derivatives, cerliponase alfa (Brineura)
- Have, in the opinion of the PI, a clinically significant abnormality in their clinical laboratory values (hematology, chemistry, or urinalysis) at screening that would preclude their participation in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Miglustat 100 milligrams (mg) Oral CapsuleSubjects will initiate miglustat at Week 1 and dosing will be escalated until 600mg/d. If a subject has not reached the maximum dose (600 mg/d) by Week 8, the Week 8 dose will be subject's MTD. | Drug | Oral miglustat |
Primary outcome
Number of Treatment-emergent Adverse Events.
Time frame: 78 weeks
Number of treatment-emergent adverse events (TEAEs) assessed at all visits and phone calls, with severity classified according to CTCAE v5.0
6 secondary outcomes
Miglustat Pharmacokinetic (PK) Parameter Cmax
Time frame: 8 weeks
Miglustat PK Parameter Tmax
Time frame: 8 weeks
Miglustat PK Parameter Area Under Curve (AUC)
Time frame: 8 weeks
Miglustat PK Parameter T1/2
Time frame: 8 weeks
Clinical Efficacy Based on Unified Batten Disease Rating Scale Subscores
Time frame: 78 weeks
Clinical Efficacy With the Seizure Frequency
Time frame: 78 weeks
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Sep 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for Batten Disease
RecruitingObservational study
Clinical and Neuropsychological Investigations in Batten Disease
Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Not yet recruitingPhase 3
Study With Batten-1 (Miglustat Liquid Formulation) to Treat Ceroid Lipofuscinosis Neuronal 3 (CLN3) Disease
CLN3
RecruitingPhase 1/2
A Registrational Study of TTX-381 to Treat Vision Loss in CLN2 Disease
Neuronal Ceroid Lipofuscinosis Type 2
RecruitingObservational study
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Batten Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gary D. Clark, MD principal investigator
Texas Children Hospital
An N. Dang Do, MD, PhD principal investigator
National Institute of Health Clinical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Miglustat 100 milligrams (mg) Oral Capsule in people with Batten Disease, run by Beyond Batten Disease Foundation at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 9 Sep 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Treatment-emergent Adverse Events. (time frame: 78 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Sep 2025.