NCT05174039已完成1 期
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
适应症
干预措施
相关药物
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 6
- 试验地点
- 1
- 主要终点
- Number of Treatment-emergent Adverse Events.
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 17 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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)
- •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
排除标准
- 未提供
研究组 & 干预措施
Oral miglustat
Experimental
The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID)
干预措施: Miglustat 100 milligrams (mg) Oral Capsule (Drug)
结局指标
主要结局
Number of Treatment-emergent Adverse Events.
时间窗: 78 weeks
Number of treatment-emergent adverse events (TEAEs) assessed at all visits and phone calls, with severity classified according to CTCAE v5.0
次要结局
- 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)
研究者
研究点 (1)
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相关资讯
Batten-1 Advances Toward Pivotal Phase 3 Trial as THX Pharma, Biocodex, and BBDF Unite on International Batten Disease Awareness Day- THX Pharma, Biocodex, and the Beyond Batten Disease Foundation jointly serve as Platinum Sponsors of the 2026 BDSRA Annual Family Conference, marking International Batten Disease Awareness Day on June 9.
- The partners will deliver an update on Batten-1, an oral miglustat-based investigational therapy, and the planned initiation of an international pivotal Phase 3 study later in 2026.
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- A Phase 3 trial, with visual acuity as the primary endpoint, is planned to support drug registration in the U.S. and Europe.
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