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.
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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
56
Sepiapterin powder for oral use will be mixed in water or apple juice prior to administration.
Indiana University School of Medicine
Indianapolis, Indiana, United States
RECRUITINGWomen and Children Hospital
North Adelaide, Australia
RECRUITINGMean Change From Baseline in Full-scale Intelligence Quotient (FSIQ) Wechsler Preschool and Primary Scale of Intelligence - Fourth Edition (WPPSI-IV) Score
Analysis for participants ≥30 months to \<6 years of age.
Time frame: Baseline, Year 2
Mean Change From Baseline in FSIQ Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V) Score
Analysis for participants ≥6 years to 16 years of age.
Time frame: Baseline, Year 2
Change From Baseline in Phenylketonuria-Quality of Life (PKU-QOL) Questionnaire Score
Time frame: Baseline up to 4 years
Change From Baseline in the European Quality of Life - 5 Dimensions (EQ-5D) Score
Time frame: Baseline up to 4 years
Mean Change From Baseline in FSIQ (WPPSI-IV) Score
Analysis for participants aged ≥30 months to \<6 years.
Time frame: Baseline, Year 4
Mean Change From Baseline in FSIQ (WISC-V) Score
Analysis for participants aged ≥6 years to 16 years.
Time frame: Baseline, Year 4
Change From Baseline in Mean Blood Phenylalanine (Phe) Levels
Time frame: Baseline up to 6 years
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The Royal Children's Hospital
Parkville, Australia
RECRUITINGCentre Hospitalier Universitaire (CHU) de Lille - Hôpital Jeanne de Flandre
Lille, France
RECRUITINGAssistance Publique - Hôpitaux de Paris (AP-HP) - Hôpital Necker-Enfants Malades
Paris, France
RECRUITINGCentre Hospitalier Régional Universitaire (CHRU) de Tours - Hôpital Clocheville
Tours, France
RECRUITINGChildren's Health Ireland (CHI)
Dublin, Ireland
RECRUITINGPomorski Uniwersytet Medyczny w Szczecinie
Szczecin, Poland
RECRUITINGInstytut Matki i Dziecka
Warsaw, Poland
RECRUITINGBirmingham Women's and Children's NHS Foundation Trust
Birmingham, United Kingdom
RECRUITING