A Phase 1/2 interventional study of Miglustat 100 milligrams (mg) Oral Capsule in Batten Disease, sponsored by Beyond Batten Disease Foundation. Completed at 1 site in United States. Open to participants aged 17 Years and older. Per ClinicalTrials.gov, last updated 2025-09-09.
Sponsored by Beyond Batten Disease Foundation · Phase 1/2, Interventional, and Treatment
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.
46 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 12 are open to participants now.
This study's enrollment of 6 is below the median of 13 across 20 interventional studies indexed under Neuronal Ceroid-Lipofuscinoses.
Browse Neuronal Ceroid-Lipofuscinoses studies →This is the only study on the registry with Beyond Batten Disease Foundation as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Individuals
Have genetically confirmed diagnosis of syndromic CLN3 disease with
EITHER:
A. 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.
Exclusion criteria
Individuals
The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID)
Drug: Miglustat 100 milligrams (mg) Oral Capsule
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.
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
Time frame: 78 weeks
Miglustat Pharmacokinetic (PK) Parameter Cmax
Maximum plasma concentration Cmax
Time frame: 8 weeks
Miglustat PK Parameter Tmax
Time of Maximum concentration observed T max
Time frame: 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.
Time frame: 8 weeks
Miglustat PK Parameter T1/2
Miglustat elimination half life T1/2
Time frame: 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.
Time frame: 78 weeks
Clinical Efficacy With the Seizure Frequency
Seizure frequency were to be assessed using a seizure diary
Time frame: 78 weeks
Participants were recruited at hospital. The first participant was recruited on 10 March 2022 and the last participant was recruited on 08 September 2022.
| Milestone | Oral Miglustat |
|---|---|
| Started | 6 |
| Completed | 6 |
| Not completed | 0 |
Number of treatment-emergent adverse events (TEAEs) assessed at all visits and phone calls, with severity classified according to CTCAE v5.0
| Participants | Oral Miglustat |
|---|---|
| Number of Treatment-emergent Adverse Events. | 6 |
Maximum plasma concentration Cmax
| ng/ml | Oral Miglustat |
|---|---|
| Miglustat Pharmacokinetic (PK) Parameter Cmax | 2870 ± 35.2 |
Time of Maximum concentration observed T max
| hour | Oral Miglustat |
|---|---|
| Miglustat PK Parameter Tmax | 3.09 ± 44.1 |
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.
| h*ng/ml | Oral Miglustat |
|---|---|
| Miglustat PK Parameter Area Under Curve (AUC) | 19000 ± 40.3 |
Miglustat elimination half life T1/2
| hour | Oral Miglustat |
|---|---|
| Miglustat PK Parameter T1/2 | 7.59 ± 19.0 |
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.
| units on a scale | Oral Miglustat |
|---|---|
| Clinical Efficacy Based on Unified Batten Disease Rating Scale Subscores | 1.76 ± 4.96 |
Seizure frequency were to be assessed using a seizure diary
| number of seizures / 3 months | Oral Miglustat |
|---|---|
| Clinical Efficacy With the Seizure Frequency | 1.83 ± 3.13 |
Collected over Total treatment duration ranged between 510 days and 804 days, during which adverse events were collected until participants could switch to an expanded access program.. Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Oral Miglustat | 0/6 (0%) | 1/6 (16.7%) | 6/6 (100%) |
| Event | Oral Miglustat |
|---|---|
| DysphagiaGastrointestinal disorders | 1/6 |
| Medical device site cellulitisInfections and infestations | 1/6 |
| Event | Oral Miglustat |
|---|---|
| DiarrheaGastrointestinal disorders | 6/6 |
| Weight decreasedInvestigations | 6/6 |
| TremorNervous system disorders | 5/6 |
| Influenza-like illnessGeneral disorders | 5/6 |
| SeizureNervous system disorders | 4/6 |
| AnxietyPsychiatric disorders | 4/6 |
| Platelet count decreasedInvestigations | 3/6 |
| Upper respiratory tract infectionInfections and infestations | 3/6 |
| FlatulenceGastrointestinal disorders | 3/6 |
| Anal incontinenceGastrointestinal disorders | 3/6 |
6
| Age, Continuous(years) | Oral Miglustat |
|---|---|
| Mean | 18.8 ± 0.98 |
| Sex: Female, Male(Participants) | Oral Miglustat |
|---|---|
| Female | 1 |
| Male | 5 |
| Race (NIH/OMB)(Participants) | Oral Miglustat |
|---|---|
| American Indian or Alaska Native | 0 |
| Asian | 0 |
| Native Hawaiian or Other Pacific Islander | 0 |
| Black or African American | 0 |
| White | 6 |
| More than one race | 0 |
| Unknown or Not Reported | 0 |
| Region of Enrollment(participants) | Oral Miglustat |
|---|---|
| United States | 6 |
| Body weight(kilogram) | Oral Miglustat |
|---|---|
| Mean | 70.45 ± 6.70 |
| Body Mass Index(kilogram/meter square) | Oral Miglustat |
|---|---|
| Mean | 23.63 ± 4.74 |
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