An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease

NCT05174039 | Completed Phase 1 Results FDA Drug

• 1 other identifier: Batten-1-01
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Batten Disease

Keywords

Batten disease; CLN3; treatment; miglustat; safety

Outcome Measures

Primary Outcomes (1)

• 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

  78 weeks

Secondary Outcomes (6)

• Miglustat Pharmacokinetic (PK) Parameter Cmax

  8 weeks

• Miglustat PK Parameter Tmax

  8 weeks

• Miglustat PK Parameter Area Under Curve (AUC)

  8 weeks

• Miglustat PK Parameter T1/2

  8 weeks

• Clinical Efficacy Based on Unified Batten Disease Rating Scale Subscores

  78 weeks

Study Arms (1)

Oral miglustat

EXPERIMENTAL

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

Drug: Miglustat 100 milligrams (mg) Oral Capsule

Interventions

Miglustat 100 milligrams (mg) Oral Capsule DRUG

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.

Oral miglustat

Eligibility Criteria

• Age: 17 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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:
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Beyond Batten Disease Foundation: lead
• Theranexus: collaborator

Study Sites (1)

Texas Children Hospital

Houston, Texas, 77030, United States

Location

Related Links

• Related Info

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Chief Medical Officer
• Organization: Theranexus

marie.sebille@theranexus.com

0688941976

Study Officials

• Gary D. Clark, MD

  Texas Children Hospital

  PRINCIPAL INVESTIGATOR

• An N. Dang Do, MD, PhD

  National Institute of Health Clinical Center

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 18, 2021
• First Posted: December 30, 2021
• Study Start: March 10, 2022
• Primary Completion: May 30, 2024
• Study Completion: May 30, 2024
• Last Updated: September 9, 2025
• Results First Posted: September 9, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)