EUCTR2019-002375-34-GB进行中（未招募）1 期
A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 83
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Interventional clinical trial of medicinal product
入排标准
- 性别
- All
入选标准
- •- Primary population and adult secondary population: age = 18 years
- •- Juvenile/adolescent secondary population: 2 = age < 18 years with weight = 10 kg
- •- Participants with a diagnosis of late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) caused by genetic ß-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes (primary population only); a secondary population will enroll patients with diagnosis of juvenile/adolescent GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1 or juvenile adult galactosialidosis
- •- For primary population, the participant has the ability to perform the 9-HPT at the screening visit in < = 240 seconds for the 2 consecutive trials of the dominant hand and the 2 consecutive trials of the nondominant hand.
- •- Participants with a history of seizures well controlled by medication other than strong or moderate inducer or inhibitor of CYP3A4
- •- Participant is cooperative, able to ingest oral medication, willing to travel to a study site (if applicable), and able to comply with all aspects of the study, including all assessments, according to the Investigator's judgement
- •- Signed written informed assent/consent
- •- Contraception for sexually active male participants or female patient; not pregnant or breastfeeding
- •Are the trial subjects under 18? yes
- •Number of subjects for this age range: 10
- •F.1.2 Adults (18-64 years) yes
- •F.1.2.1 Number of subjects for this age range 73
- •F.1.3 Elderly (>=65 years) no
- •F.1.3.1 Number of subjects for this age range
排除标准
- •- Participant has clinical features of Tay-Sachs or Sandhoff disease, not caused by ß-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes and/or is without clinical features
- •- For primary population and participants with juvenile/adolescent late
- •onset GM2 gangliosidosis and GM1 gangliosidosis, the participant cannot
- •understand and perform all age-appropriate study assessments with the
- •exception of 25FWT.
- •- Relevant medical disorders that would compromise his/her safety
- •- Documented diagnosis of hepatitis B, C, human immunodeficiency virus 1 or 2
- •- World Health Organization (WHO) grade > 2 cortical cataract or a grade > 2 posterior subcapsular cataract; patients with nuclear cataracts will be accepted
- •- Participant who requires invasive ventilatory support
- •- Current treatment by anticoagulants, cataractogenic medications or any medications that may worsen the vision of patient with cataract
- •- Previous treatment with substrate reduction therapy (SRT) within 3 months prior to study enrollment, strong or moderate inducers or inhibitors of CYP3A4 within 14 days or 5 half-lives prior to enrollment
- •- Current participation in another study
- •- Use of investigational medicinal product (IMP) within 3 months or 5 half-lives prior to enrollment, whichever is longer, before study enrollment (for N-acetyl-leucine, within 5 half-lives before study enrollment).
- •- Liver enzymes (alanine aminotransferase [ALT]/aspartate aminotransferase [AST]) or total bilirubin > 2 x the upper limit of normal (ULN) at the time of screening unless the participant has the diagnosis of Gilbert syndrome and maintains a level of bilirubin < 5 mg/dl and direct bilirubin < 20% (1 mg/dl) of total bilirubin level
- •- Renal insufficiency is defined by estimated glomerular filtration rate (eGFR) < 30 mL/min/1.73m2 at the screening visit
研究者
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