Single-arm Open-label Trial to Assess Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BI 3000202 in Adult Patients With Selected Type 1 Interferonopathies
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 16
- 试验地点
- 30
- 主要终点
- Occurrence of any treatment-emergent adverse events assessed as related to study drug
研究概览
简要总结
This study is open to adults with selected type 1 interferonopathies. People can join the study if they have Aicardi-Goutières syndrome (AGS), Coatomer subunit alpha (COPA) syndrome, Familial chilblain lupus (FCL), or another type 1 interferonopathy with a specific gene mutation.
The purpose of this study is to find out how BI 3000202 is tolerated in people with selected type 1 interferonopathies. Participants take a lower dose of BI 3000202 as tablets for 4 weeks. Afterwards, they take a higher dose of BI 3000202 as tablets for 36 weeks. They may continue with the study treatment until every participant has completed 40 weeks of treatment (about 9 months). The participants may also continue their regular treatment for their condition during the study.
During this study, participants visit the study site 13 times or more, depending on when they start their participation. The doctors check the health of the participants and note any health problems that could have been caused by BI 3000202.
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
- 18 Years 至 74 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male and female adult patients from ≥18 years (or alternative age for adults based on local regulations) to <75 years.
- •Genetic diagnosis with mutations in the following affected genes: three prime repair exonuclease 1 (TREX1), ribonuclease H2 subunit A, B or C (RNASEH2B, RNASEH2C, RNASEH2A), SAM And HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 (SAMHD1), U7 Small Nuclear RNA Associated sm-like protein (LSM11), RNA component of the U7 snRNP (RNU7-1) for AGS; Coatomer subunit alpha (COPA) for COPA syndrome; TREX1, SAM And HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 (SAMHD1) for Familial chilblain lupus (FCL); DNA nuclease 2 (DNASE2), Adenosine triphosphate synthase family AAA domain containing 3A (ATAD3A) for other type 1 interferonopathies. Genotype documented in medical history is sufficient for eligibility determination and does not require confirmation. Variant identification as "pathogenic" or "likely pathogenic" is preferred according to a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. In the absence of such identification, clinical assessment of pathogenicity is required to be documented in the medical records.
- •Patients may be either:
- •On standard of care, provided it is on stable doses
- •Not on standard of care
- •If women of childbearing potential (WOCBP): must be ready and able to use highly effective methods of birth control. Non-vasectomised male trial participants whose sexual partner is a woman of childbearing potential must be ready and able to use male contraception.
排除标准
- •Major chronic inflammatory or connective tissue disease other than selected type 1 interferonopathies, as assessed by the investigator.
- •Increased risk of infectious complications based on investigator's judgement.
- •Evidence of potential moderate to severe loss of kidney function.
- •Evidence of hepatic impairment.
- •Further exclusion criteria apply.
研究组 & 干预措施
BI 3000202
干预措施: BI 3000202_low dose (Drug)
BI 3000202
干预措施: BI 3000202_high dose (Drug)
结局指标
主要结局
Occurrence of any treatment-emergent adverse events assessed as related to study drug
时间窗: Approximately 72 weeks
次要结局
- Maximum measured concentration of BI 3000202 in plasma at steady state (Cmax,ss)(At Days 29 and 85)
- Predose concentration of BI 3000202 in plasma at steady state immediately before administration of the next dose (Cpre,ss)(At Days 29 and 85)
- Change from baseline in interferon gene score (IGS)(At baseline, at Week 12)
- Area under the concentration-time curve of BI 3000202 in plasma from time 0 to 4 hours after administration of the first dose ( AUC0-4)(At Day 1)
- Maximum measured concentration of BI 3000202 in plasma after administration of the first dose (Cmax)(At Day 1)
- Area under the concentration-time curve of BI 3000202 in plasma from time 0 to 4 hours at steady state (AUC0-4,ss)(At Days 29 and 85)
- Maximum measured concentration of BI 3000202 in plasma at steady state (Cmax,ss)(At Days 29 and 85)
- Predose concentration of BI 3000202 in plasma at steady state immediately before administration of the next dose (Cpre,ss)(At Days 29 and 85)
- Change from baseline in interferon gene score (IGS)(At baseline, at Week 12)