RECRUITING

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

A Phase 3b Open-Label Study of Long-Term Neurocognitive Outcomes in Children With Phenylketonuria Treated With Sepiapterin

Quick Facts

Study Start:2024-03-04

Study Completion:2031-02-28

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06302348

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 12 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD

Inclusion Criteria	Exclusion Criteria
* 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 up to 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 1 blood Phe measurement ≥600 micromoles (μmol)/liter (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. * Blood Phe at newborn screening ≥600 μmol/L. * Baseline FSIQ score ≥80.	* 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.

Inclusion Criteria

Exclusion Criteria

* 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 up to 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 1 blood Phe measurement ≥600 micromoles (μmol)/liter (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.
* Blood Phe at newborn screening ≥600 μmol/L.
* Baseline FSIQ score ≥80.

* 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.

Contacts and Locations

Study Contact

Patient Advocacy

CONTACT

1-866-562-4620

medinfo@ptcbio.com

Study Locations (Sites)

Indiana University

Indianapolis, Indiana, 46202

United States

Collaborators and Investigators

Sponsor: PTC Therapeutics

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-03-04

Study Completion Date2031-02-28

Study Record Updates

Study Start Date2024-03-04

Study Completion Date2031-02-28

Terms related to this study

Additional Relevant MeSH Terms

Phenylketonuria