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A study of sepiapterin in participants with phenylketonuria (PKU) (EPIPHENY)
EU CTIS ID: 2024-514435-20-00
What this study is testing
To evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with phenylketonuria (PKU) when treatment is initiated in early childhood
- Therapeutic confirmatory (Phase III)
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- 01. Informed consent, and if necessary, assent (with parent/legally designated representative consent).
- 10. For participants <1 month of age at the time of informed consent/assent only: Blood Phe at newborn screening ≥600 μmol/L.
- 11. For participants ≥30 months to <10 years of age: Baseline FSIQ score ≥80.
- 02. Male or female outpatients <10 years of age at the time of informed consent/assent form signature.
- 03. Parent(s) or legally designated representative(s) willing and able to comply with all study procedures.
- 04. 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.
You likely can't join if
- 01. 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.
- 05. Current use of methotrexate, pemetrexed, trimetrexate, or other dihydrofolate reductase inhibitors.
- 06. 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.
- 07. Treatment with BH4 supplementation (sapropterin, KUVAN) within 3 months prior to Screening.
- 08. Current participation in another investigational drug study or use of any investigational agent within 30 days prior to Screening.
- 09. 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.
See the full eligibility criteria
Who can join
- 01. Informed consent, and if necessary, assent (with parent/legally designated representative consent).
- 10. For participants <1 month of age at the time of informed consent/assent only: Blood Phe at newborn screening ≥600 μmol/L.
- 11. For participants ≥30 months to <10 years of age: Baseline FSIQ score ≥80.
- 02. Male or female outpatients <10 years of age at the time of informed consent/assent form signature.
- 03. Parent(s) or legally designated representative(s) willing and able to comply with all study procedures.
- 04. 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.
- 05. 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 at least 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.
- 06. Willing to maintain prescribed daily protein/Phe during Screening and Part 1.
- 07. For participants ≥1 month of age at Screening: Established diagnosis of PKU with hyperphenylalaninemia evidenced by at least 2 blood Phe measurement ≥600 μmol/L as documented in the medical history.
- 08. 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.
- 09. For participants ≥1 month of age at Screening: Two screening blood Phe concentration values must be in the range ≥120 to ≤480 μmol/L.
What rules you out
- 01. 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.
- 05. Current use of methotrexate, pemetrexed, trimetrexate, or other dihydrofolate reductase inhibitors.
- 06. 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.
- 07. Treatment with BH4 supplementation (sapropterin, KUVAN) within 3 months prior to Screening.
- 08. Current participation in another investigational drug study or use of any investigational agent within 30 days prior to Screening.
- 09. 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.
- 15. Previous treatment for >6 weeks with sepiapterin (ie, SEPHIENCE™)
- 10. 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.
- 11. History of gastric surgery, including Roux-en-Y gastric bypass surgery or an antrectomy with vagotomy, or gastrectomy.
- 12. 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.
- 13. 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 m2.
- 14. Major surgery within 90 days prior to Screening visit.
- 02. History of allergies or adverse reactions to any of the ingredients or excipients of synthetic tetrahydrobiopterin (BH4) or sepiapterin.
- 03. Inability to tolerate oral medication.
- 04. A female who is pregnant or breastfeeding or considering pregnancy.
The study team makes the final eligibility decision.
Where it's taking place
- Turkey
- United States
- Australia
- United Kingdom
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Turkey; United States; Australia; United Kingdom. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.