Phenylalanine Hydroxylase DeficienciesPhase 2/3NCT00432822
Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
A Phase 2/3 study testing tetrahydrobiopterin (BH4) in people with Phenylalanine Hydroxylase Deficiencies, run by Orphanetics Pharma Entwicklungs GmbH.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Phenylalanine Hydroxylase Deficiencies
- What is being tested?
- tetrahydrobiopterin (BH4)
- How many people
- 50 participants
- Where
- No sites listed yet
- Study dates
- Start not givento not given
- Phase
- Phase 2/3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
About this study
Official title: Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency
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.
- Conditions
- Phenylalanine Hydroxylase Deficiencies
- Being tested
- tetrahydrobiopterin (BH4)
- Keywords
- phenylketonuria, phenylalanine hydroxylase deficiency, BH4, responsive, tetrahydrobiopterin, newborns, infants, children, adolescents
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
tetrahydrobiopterin (BH4)Drug
What is being measured
The primary outcome is the main question the study is designed to answer.
dietary phenylalanine tolerance
safety
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2007 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Phenylalanine Hydroxylase DeficienciesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2/3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Orphanetics Pharma Entwicklungs GmbH
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Andrea Superti-Furga, Prof., Principal investigator, Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00432822
- Sponsor's protocol ID
- BH4/III/05/001
- Other IDs
- EudraCT Number: 2006-000648-15
- Status last verified
- Sep 2007
- First submitted
- 7 Feb 2007
- Last updated
- 20 Sep 2007
- Results posted
- No
Publications
Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002 Dec 26;347(26):2122-32. doi: 10.1056/NEJMoa021654.
PubMed 12501224
Study at a glance
From the registry record, last updated by the sponsor on 20 Sep 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Double-Blind, Placebo Controlled, Multicentre Study With an Open Label Extension to Evaluate the Efficacy and Safety of Tetrahydrobiopterin (BH4) in Children and Adolescents With Hyperphenylalaninemia Caused by Phenylalanine Hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT00432822
- Acronym / sponsor ID
- BH4/III/05/001
- Conditions
- Phenylalanine Hydroxylase Deficiencies
- Keywords
- phenylketonuria, phenylalanine hydroxylase deficiency, BH4, responsive, tetrahydrobiopterin, newborns, infants, children
- Phase
- Phase 2/3
- Study type
- Interventional
- Recruitment status
- Terminated
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Orphanetics Pharma Entwicklungs GmbHIndustry (pharma, biotech, devices)
- First posted
- 8 Feb 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| tetrahydrobiopterin (BH4) | Drug | – |
Primary outcome
dietary phenylalanine tolerance
safety
Results and safety
The study was stopped early. Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Sep 2007.
- Background: PubMed 12501224Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002 Dec 26;347(26):2122-32. doi: 10.1056/NEJMoa021654.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Andrea Superti-Furga, Prof. principal investigator
Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Questions about this trial
What is this clinical trial studying?
A Phase 2/3 study testing tetrahydrobiopterin (BH4) in people with Phenylalanine Hydroxylase Deficiencies, run by Orphanetics Pharma Entwicklungs GmbH.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 20 Sep 2007. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early. Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
dietary phenylalanine tolerance. The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00432822, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Sep 2007.