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Trial record 1 of 46 for:    batten disease
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An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of CLN3 Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT05174039
Recruitment Status : Active, not recruiting
First Posted : December 30, 2021
Last Update Posted : September 16, 2022
Information provided by (Responsible Party):
Beyond Batten Disease Foundation

Brief 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.

Condition or disease Intervention/treatment Phase
Batten Disease Drug: Miglustat 100Mg Oral Capsule Phase 1 Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 6 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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
Actual Study Start Date : February 2, 2022
Estimated Primary Completion Date : September 2024
Estimated Study Completion Date : October 2024

Arm Intervention/treatment
Experimental: Oral miglustat
The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID)
Drug: Miglustat 100Mg 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.

Primary Outcome Measures :
  1. Number of participants with treatment-related adverse events as assessed by CTCAE v5.0 [ Time Frame: 104 weeks ]
    AEs will be assessed by CTCAE v5

Secondary Outcome Measures :
  1. Miglustat PK [ Time Frame: 18 weeks ]
    maximum plasma concentration Cmax

  2. Miglustat PK [ Time Frame: 18 weeks ]
    Time of Maximum concentration observedT max

  3. Miglustat PK [ Time Frame: 18 weeks ]
    Area under the plasma concentration versus time curve AUC

  4. Miglustat PK [ Time Frame: 18 weeks ]
    half life

  5. Clinical efficacy based on UBDRS score [ Time Frame: 104 weeks ]
    Unified Battend Disease Rate Score (UBDRS) : minimum value : 8 and maximum values : 242. Higher scores means a worse outcome.

  6. Clinical efficacy based on Vineland score [ Time Frame: 104 weeks ]
    Vineland scale, higher score meaning a better outcome. Score minimal : 20 and score maximal is 160

  7. Clinical efficacy with the seizure frequency [ Time Frame: 104 weeks ]
    seizure frequency will be assessed using a seizure diary

  8. Clinical efficacy with ophtalmic assessment [ Time Frame: 104 weeks ]
    optical coherence tomography (OCT) will measure the retinal thickness to evaluate changes in retinal morphology and visual acuity in the patients

  9. Clinical efficacy with MRI [ Time Frame: 104 weeks ]
    MRI assessments to measure any grey matter atrophy due to neuronal loss

Information from the National Library of Medicine

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Ages Eligible for Study:   17 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:


  1. Have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate).
  2. Are males or females ≥ 17 years of age at the time of screening
  3. Have genetically confirmed diagnosis of syndromic CLN3 disease with


    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 BBDF-101 therapy.

  4. 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).
  5. Are able to complete study assessments (subject or caregiver) and return to the clinic as scheduled

Exclusion criteria


  1. Have a medical condition that in the opinion of the PI would interfere with the safety assessments or increase the subject's risk of AEs
  2. 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)
  3. 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05174039

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United States, Texas
Texas Children Hospital
Houston, Texas, United States, 77030
Sponsors and Collaborators
Beyond Batten Disease Foundation
Additional Information:
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Responsible Party: Beyond Batten Disease Foundation
ClinicalTrials.gov Identifier: NCT05174039    
Other Study ID Numbers: Batten-1-01
First Posted: December 30, 2021    Key Record Dates
Last Update Posted: September 16, 2022
Last Verified: September 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Beyond Batten Disease Foundation:
Batten disease
Additional relevant MeSH terms:
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Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Anti-HIV Agents
Anti-Retroviral Agents
Antiviral Agents
Anti-Infective Agents
Glycoside Hydrolase Inhibitors
Hypoglycemic Agents
Physiological Effects of Drugs