Health TrialsbyHealthPanel

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

ConditionPhenylketonuria
Trial statusRecruiting
Trial phasePhase 3
Trial typeInterventional
Biological sexAll
AgeUp to 9
SponsorPTC Therapeutics

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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 1.

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.

Disqualifiers

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.

Trial design

Design model

Single group

Treatments tested in this trial

  • Sepiapterin

    Drug

    Sepiapterin powder for oral use will be mixed in water or apple juice prior to administration.

Treatment groups

56 Participants
are divided into 1 treatment group
Group A: SepiapterinExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

Mean 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
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

Secondary outcomes

1

Change From Baseline in Phenylketonuria-Quality of Life (PKU-QOL) Questionnaire Score

Time frame
Baseline up to 4 years
2

Change From Baseline in the European Quality of Life - 5 Dimensions (EQ-5D) Score

Time frame
Baseline up to 4 years
3

Mean Change From Baseline in FSIQ (WPPSI-IV) Score

Analysis for participants aged ≥30 months to \<6 years.

Time frame
Baseline, Year 4
4

Mean Change From Baseline in FSIQ (WISC-V) Score

Analysis for participants aged ≥6 years to 16 years.

Time frame
Baseline, Year 4

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

PTC Therapeutics

Lead sponsor

Source ClinicalTrials.gov
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