2024-514435-20-00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
试验速览
- 阶段
- 3 期
- 状态
- 招募中
- 入组人数
- 60
- 试验地点
- 7
- 主要终点
- Mean change in full-scale intelligence quotient (FSIQ) (WPPSI-IV or WISC-V) over a 2-year period: WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition): for participants ≥30 months to <6 years of age, WISC-V (Wechsler Intelligence Scale for Children - Fifth Edition): for participants ≥6 years to 16 years of age
研究概览
简要总结
To evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with phenylketonuria (PKU) when treatment is initiated in early childhood
入排标准
- 年龄范围
- 0 years 至 17 years（0-17 Years）
- 接受健康志愿者
- 是
入选标准
- •Informed consent, and if necessary, assent (with parent/legally designated representative consent).
- •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 ≥
- •Male or female outpatients <10 years of age at the time of informed consent/assent form signature.
- •Parent(s) or legally designated representative(s) willing and able to comply with all study procedures.
- •Women of childbearing potential, as defined in (CTCG 2024): see protocol for more details; must have a negative pregnancy test at Screening and agree to abstinence or the use of at least 1 highly effective form of contraception (with a failure rate of <1% per year when used consistently and correctly); Highly effective contraception or abstinence must be continued for the duration of the study and for at least 90 days after the last dose of the study drug.
- •Males who are sexually active with women of childbearing potential who have not had a vasectomy must agree to use a barrier method of birth control during the study and for up to 90 days after the last dose of study drug. Males must also refrain from sperm donations during this time period. Males who are abstinent will not be required to use a contraceptive method unless they become sexually active. Males who have undergone a vasectomy are not required to use a contraceptive method if at least 16 weeks post procedure.
- •Willing to maintain prescribed daily protein/Phe during Screening and Part
- •Established diagnosis of PKU with hyperphenylalaninemia evidenced by at least 2 blood Phe measurement ≥600 μmol/L as documented in the medical history.
- •For participants ≥1 month of age at Screening: A minimum of 1 documented blood Phe measurement <480 μmol/L within 1 month prior to Screening.
- •For participants ≥1 month of age at Screening: Two screening blood Phe concentration values must be in the range ≥120 to ≤480 μmol/L.
排除标准
- •The individual and/or parent(s)/legally designated representative(s), in the opinion of the investigator, is/are unwilling or unable to adhere to the requirements of the study.
- •Gastrointestinal disease (such as irritable bowel syndrome, inflammatory bowel disease, chronic gastritis, and peptic ulcer disease, etc) that could affect the absorption of study drug.
- •History of gastric surgery, including Roux-en-Y gastric bypass surgery or an antrectomy with vagotomy, or gastrectomy.
- •Any clinically significant laboratory abnormality as determined by the investigator. In general, each laboratory value from screening and baseline chemistry and hematology panels should fall within the limits of the normal laboratory reference range, unless deemed not clinically significant 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 <60 mL/min/1.73 m
- •Major surgery within 90 days prior to Screening visit.
- •History of allergies or adverse reactions to any of the ingredients or excipients of synthetic tetrahydrobiopterin (BH4) or sepiapterin.
- •Inability to tolerate oral medication.
- •A female who is pregnant or breastfeeding or considering pregnancy.
- •Current use of methotrexate, pemetrexed, trimetrexate, or other dihydrofolate reductase inhibitors.
- •Serious neuropsychiatric illness (eg, 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 GTP cyclohydrolase I, sepiapterin reductase, quinoid dihydropteridine reductase, or pterin 4-alphacarbinolamine dehydratase genes.
结局指标
主要结局
Mean change in full-scale intelligence quotient (FSIQ) (WPPSI-IV or WISC-V) over a 2-year period: WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition): for participants ≥30 months to <6 years of age, WISC-V (Wechsler Intelligence Scale for Children - Fifth Edition): for participants ≥6 years to 16 years of age
Mean change in full-scale intelligence quotient (FSIQ) (WPPSI-IV or WISC-V) over a 2-year period: WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition): for participants ≥30 months to <6 years of age, WISC-V (Wechsler Intelligence Scale for Children - Fifth Edition): for participants ≥6 years to 16 years of age
次要结局
- 01. Change from baseline in phenylketonuriaquality of life (PKU-QOL) questionnaire score over time
- 02. Change from baseline in European Quality of Life - 5 Dimensions (EQ-5D) score over time
- 03. Mean change in FSIQ (WPPSI-IV or WISC-V) over a 4-year period
- 04. Change of phenylalanine (Phe) levels over time
研究者
Kim Ingalls
Scientific
PTC Therapeutics Inc.
研究点 (7)
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