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

Beyond Batten Disease Foundation1 site in 1 country6 target enrollmentMarch 10, 2022

ConditionsBatten Disease

InterventionsMiglustat 100 milligrams (mg) Oral Capsule

DrugsMiglustat 100 milligrams (mg) Oral Capsule

Overview

Phase: Phase 1
Intervention: Miglustat 100 milligrams (mg) Oral Capsule
Conditions: Batten Disease
Sponsor: Beyond Batten Disease Foundation
Enrollment: 6
Locations: 1
Primary Endpoint: Number of Treatment-emergent Adverse Events.
Status: Completed
Last Updated: 7 months ago

Overview Investigators Eligibility Criteria Arms & Interventions Outcomes Sites Similar Trials Related News

Overview

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.

Registry

clinicaltrials.gov

Start Date

March 10, 2022

End Date

May 30, 2024

Last Updated

7 months ago

Study Type

Interventional

Study Design

Single Group

Sex

All

Investigators

Sponsor

Beyond Batten Disease Foundation

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•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
•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.
•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
•Exclusion criteria
•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)

Exclusion Criteria

Not provided

Arms & Interventions

Oral miglustat

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

Intervention: Miglustat 100 milligrams (mg) Oral Capsule

Outcomes

Primary Outcomes

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

Secondary Outcomes

Miglustat PK Parameter Tmax(8 weeks)
Miglustat PK Parameter Area Under Curve (AUC)(8 weeks)
Miglustat PK Parameter T1/2(8 weeks)
Miglustat Pharmacokinetic (PK) Parameter Cmax(8 weeks)
Clinical Efficacy Based on Unified Batten Disease Rating Scale Subscores(78 weeks)
Clinical Efficacy With the Seizure Frequency(78 weeks)