TerminatedPhase 2/3

Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety

50 participants

Plain-language summary

The aim of the study is to confirm the efficacy and safety of BH4 in the treatment of hyperphenylalaninemia caused by phenylalanine hydroxylase deficiency in patients responsive to BH4. The primary objective is to assess the effect of BH4 on phenylalanine tolerance compared to placebo under optimal blood phenylalanine control and to demonstrate safety in 12 months long-term treatment. Additionally population PK will be assessed.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Female and male patients, aged 0-18 years * Phenylalanine-4-hydroxylase (PAH) deficiency shown by mutation analysis * Blood phenylalanine concentration in the target range under dietary treatment * Written consent of a parent or legal representative * Assumed availability within the period of study participation * Patients/parents willing and able to follow the recommended diet * Use of an effective method of contraception in female patients of child bearing potential Exclusion Criteria: * BH4-deficiency due to genetic disorders in biosynthesis or recycling of BH4 * History or current evidence of poor diet compliance * History or current evidence of clinically relevant allergic or idiosyncratic reactions to drugs or food * History of allergic reactions to BH4 or its excipients * Positive pregnancy test (ß-HCG in serum) and lactating females * Participation in other drug trials within the last 30 days before start for the study

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

dietary phenylalanine tolerance

safety

Trial details

NCT IDNCT00432822

SponsorOrphanetics Pharma Entwicklungs GmbH

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

View on ClinicalTrials.gov More Phenylalanine Hydroxylase Deficiencies trials