NCT06302348招募中3 期
A Phase 3b Open-Label Study of Long-Term Neurocognitive Outcomes in Children With Phenylketonuria Treated With Sepiapterin
适应症
干预措施
相关药物
试验速览
- 阶段
- 3 期
- 状态
- 招募中
- 入组人数
- 56
- 试验地点
- 10
- 主要终点
- Mean Change From Baseline in Full-scale Intelligence Quotient (FSIQ) Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI-IV) Score
研究概览
简要总结
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
详细描述
The study includes 2 parts: Part 1 and 2. Part 1 is an open-label sepiapterin-responsiveness test and Part 2 is an open-label treatment period.
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
- — 至 9 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •For all participants:
- •Women of childbearing potential must have a negative pregnancy test at Screening and agree to abstinence or the use of at least one highly effective form of contraception for the duration of the study, and for at least 90 days after the last dose of the study drug.
- •Willing to maintain prescribed daily protein/Phe during Screening and Part
- •For participants ≥1 month of age at Screening:
- •Established diagnosis of PKU with hyperphenylalaninemia (HPA) evidenced by at least 2 blood Phe measurement ≥600 micromoles (μmol)/liter (L) as documented in the medical history.
- •A minimum of 1 documented blood Phe measurement <480 μmol/L within 1 month prior to Screening.
- •Two screening blood Phe concentration values must be in the range ≥120 to ≤480 μmol/L.
- •For participants <1 month of age at the time of informed consent/assent only:
- •Blood Phe at newborn screening ≥600 μmol/L.
- •For participants ≥30 months to <10 years of age:
- •Baseline FSIQ score ≥
排除标准
- •History of allergies or adverse reactions to any of the ingredients or excipients of synthetic tetrahydrobiopterin (BH4) or sepiapterin.
- •Serious neuropsychiatric illness (for example, major depression) not currently under medical control or other concurrent disease or condition that, in the opinion of the investigator or sponsor, would interfere with the participant's ability to participate in the study or increase the risk of participation for that participant.
- •Treatment with BH4 supplementation (sapropterin, Kuvan®) within 3 months prior to Screening.
- •Current participation in another investigational drug study or use of any investigational agent within 30 days prior to Screening.
- •Confirmed diagnosis of a primary BH4 deficiency as evidenced by biallelic pathogenic mutations in 6-pyruvoyltetrahydropterin synthase, recessive Guanosine-5'-triphosphate (GTP) cyclohydrolase I, sepiapterin reductase, quinoid dihydropteridine reductase, or pterin 4-alphacarbinolamine dehydratase genes.
- •Any clinically significant laboratory abnormality as determined by the investigator.
- •Any past medical history of an abnormal physical examination and/or laboratory findings indicative of signs or symptoms of renal disease, including calculated (Bedside Schwartz Equation) glomerular filtration rate (GFR) <60 milliliters (mL)/minute (min)/1.73 square meter (m^2).
- •Major surgery within 90 days prior to Screening visit.
- •Previous treatment for >6 weeks with sepiapterin (that is, Sephience).
- •Note: Other protocol-defined inclusion and exclusion criteria may apply.
研究组 & 干预措施
Sepiapterin
Experimental
Participants will receive age- and weight-adjusted doses of sepiapterin orally once daily for up to 6 years.
干预措施: Sepiapterin (Drug)
结局指标
主要结局
Mean Change From Baseline in Full-scale Intelligence Quotient (FSIQ) Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI-IV) Score
时间窗: Baseline, Year 2
Analysis for participants ≥30 months to \<6 years of age.
Mean Change From Baseline in FSIQ Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V) Score
时间窗: Baseline, Year 2
Analysis for participants ≥6 years to 16 years of age.
次要结局
- Change From Baseline in Phenylketonuria-Quality of Life (PKU-QOL) Questionnaire Score(Baseline up to 4 years)
- Change From Baseline in the European Quality of Life - 5 Dimensions (EQ-5D) Score(Baseline up to 4 years)
- Mean Change From Baseline in FSIQ (WPPSI-IV) Score(Baseline, Year 4)
- Mean Change From Baseline in FSIQ (WISC-V) Score(Baseline, Year 4)
- Change From Baseline in Mean Blood Phenylalanine (Phe) Levels(Baseline up to 6 years)
研究者
研究点 (10)
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