ClinicalTrials.gg
RecruitingNCT06302348EPIPHENYUpdated Oct 23, 2026

A Study of Sepiapterin in Participants With Phenylketonuria (PKU)

A Phase 3 interventional study of Sepiapterin in Phenylketonuria, sponsored by PTC Therapeutics. Recruiting at 14 sites in 7 countries. Open to participants aged Up to 9 Years. Per ClinicalTrials.gov, last updated 2026-10-23.

Sponsored by PTC Therapeutics · Phase 3, Interventional, and Treatment

From the registry’s dates

  • Started Mar 2024; still recruiting 2 years 8 months later.
Updated Oct 23, 2026First site in Sweden4 sites addedGo to Updates ↓
Phase
Phase 3
Study type
Interventional
Enrollment
56
Allocation
Not applicable
Ages
Up to 9 Years
Sex
All
01

Study summary

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.

Read the detailed description

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.

02

Conditions studied

  • Phenylketonuria

Browse trials for

03

In context

Phenylketonurias

191 studies on the registry are indexed under Phenylketonurias; 40 are open to participants now.

This study's planned enrollment of 56 is above the median of 27 across 122 interventional studies indexed under Phenylketonurias.

Browse Phenylketonurias studies →

Lead sponsor

PTC Therapeutics is the lead sponsor of 65 studies on the registry; 3 are open to participants now.

Of its 18 completed or terminated interventional studies of FDA-regulated products, 14 (78%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Up to 9 Years
Sexes eligible
All
Accepts healthy volunteers
No

Eligibility criteria

Key Inclusion Criteria:

For all participants:

  • Women of must have a negative pregnancy test at Screening and agree to abstinence or the use of at least one highly effective form of 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.

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 /assent only:

  • Blood Phe at newborn screening ≥600 μmol/L.

For participants ≥30 months to \<10 years of age:

  • Baseline FSIQ score ≥80.

Key Exclusion Criteria:

  • History of allergies or adverse reactions to any of the ingredients or 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 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 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) (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.

Terms in these criteria, in plain language(7)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Childbearing potential

Able to become pregnant: from the first period until menopause, unless permanently unable to through surgery (removal of the womb, or of both ovaries or both fallopian tubes).

Criteria for people of childbearing potential usually ask for a negative pregnancy test and for contraception during the study and for a time after it.

Contraception

Ways of preventing pregnancy. “Highly effective” methods fail less than 1% of the time a year when used correctly — for example an IUD or an implant.

Criteria usually say which methods count and how long to keep using them after the last dose, sometimes for male participants too. Some studies accept a partner’s vasectomy if it was confirmed successful and that person is the participant’s only sexual partner.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Excipients

The other ingredients in a medicine besides the active drug, such as fillers, colours or preservatives.

Investigational drug or device

A drug or device being studied in a clinical trial.

It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.

Clinically significant

Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.

GFR and eGFR (kidney filtering)

GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².

Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.

05

Study design

Phase
Phase 3
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
56 participants (estimated)

Study arms

  • Experimental
    Sepiapterin

    Participants will receive age- and weight-adjusted doses of sepiapterin orally once daily for up to 6 years.

    Drug: Sepiapterin

Interventions

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

    Also known as: PTC923, Sephience

06

What researchers measure

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

  5. Change From Baseline in Mean Blood Phenylalanine (Phe) Levels

    Time frame: Baseline up to 6 years

07

Study locations

14 of 14 sites recruiting
  • Indiana University School of Medicine
    Indianapolis, Indiana 46202, United States
    Recruiting
    • Susan Romie · Contact
    • Melissa Lah · Principal investigator
  • Perth Children's Hospital
    Nedlands, WA 6009, Australia
    Recruiting
    • Maina Kava · Principal investigator
  • Women and Children Hospital
    North Adelaide, SA 5006, Australia
    Recruiting
    • Drago Bratkovic · Principal investigator
  • The Royal Children's Hospital
    Parkville, VIC 3052, Australia
    Recruiting
    • Heidi Peters · Principal investigator
  • Children's Health Queensland -Queenslan Children Hospital
    South Brisbane, QLD 4101, Australia
    Recruiting
    • Anita Inwood · Principal investigator
  • Centre Hospitalier Universitaire (CHU) de Lille - Hôpital Jeanne de Flandre
    Lille, 59800, France
    Recruiting
    • Karine Mention · Principal investigator
  • Assistance Publique - Hôpitaux de Paris (AP-HP) - Hôpital Necker-Enfants Malades
    Paris, 75015, France
    Recruiting
    • Jean-Baptiste Arnoux · Principal investigator
  • Centre Hospitalier Régional Universitaire (CHRU) de Tours - Hôpital Clocheville
    Tours, 37000, France
    Recruiting
    • François Labarthe, Dr. · Principal investigator
  • Children's Health Ireland (CHI)
    Dublin, D01 YC67, Ireland
    Recruiting
    • Joanne Hughes, Dr. · Principal investigator
  • Pomorski Uniwersytet Medyczny w Szczecinie
    Szczecin, 70-204, Poland
    Recruiting
    • Maria Gizewska · Principal investigator
  • Instytut Matki i Dziecka
    Warsaw, 01-211, Poland
    Recruiting
    • Joanna Taybert, Dr. · Principal investigator
  • Karolinska Universitetssjukhuset - Astrid Lindgrens Barnsjukhus
    Stockholm, 171 76, Sweden
    Recruiting
    • Svetlana Lajic · Principal investigator
  • Birmingham Women's and Children's NHS Foundation Trust
    Birmingham, B4 6NH, United Kingdom
    Recruiting
    • Suresh Vijay · Principal investigator
  • Great Ormond Street Hospital
    London, WC1N 3JH, United Kingdom
    Recruiting
    • Anupam Chakrapani · Principal investigator
08

Timeline

1 registry update since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Mar 2024 (actual). Primary completion is estimated for Feb 2031, 83 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Mar 4, 2024
First posted
Mar 8, 2024
StartActual
Mar 4, 2024
Primary completionEst.
Feb 28, 2031
CompletionEst.
Feb 28, 2031
Last update
Oct 23, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Sites
4 sites added — first site in Sweden
Show 4 added (2 Australia, 1 Sweden, 1 United Kingdom)
  • Perth Children's Hospital · Nedlands, Australia
  • Children's Health Queensland -Queenslan Children Hospital · South Brisbane, Australia
  • Karolinska Universitetssjukhuset - Astrid Lindgrens Barnsjukhus · Stockholm, Sweden
  • Great Ormond Street Hospital · London, United Kingdom
Oct 23, 2026
Show all 1 update
  1. Oct 23, 2026
    4 sites added — first site in Sweden
    Show 4 added (2 Australia, 1 Sweden, 1 United Kingdom)
    • Perth Children's Hospital · Nedlands, Australia
    • Children's Health Queensland -Queenslan Children Hospital · South Brisbane, Australia
    • Karolinska Universitetssjukhuset - Astrid Lindgrens Barnsjukhus · Stockholm, Sweden
    • Great Ormond Street Hospital · London, United Kingdom
    + 1 other change: verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

09

Registry details

Key details

Study ID
NCT06302348
Lead sponsor
PTC Therapeutics
Responsible party
Sponsor
First posted
Mar 8, 2024
Start date
Mar 4, 2024
Primary completion
Feb 28, 2031 (estimated)
Completion
Feb 28, 2031 (estimated)
Last update
Oct 23, 2026

Study contacts

Patient Advocacy
Contact
medinfo@ptcbio.com
1-866-562-4620

Oversight

Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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