Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
Primary Purpose
Phenylalanine Hydroxylase Deficiencies
Status
Terminated
Phase
Phase 2
Locations
Study Type
Interventional
Intervention
tetrahydrobiopterin (BH4)
Sponsored by
About this trial
This is an interventional treatment trial for Phenylalanine Hydroxylase Deficiencies focused on measuring phenylketonuria, phenylalanine hydroxylase deficiency, BH4, responsive, tetrahydrobiopterin, newborns, infants, children, adolescents
Eligibility Criteria
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
Sites / Locations
Outcomes
Primary Outcome Measures
dietary phenylalanine tolerance
safety
Secondary Outcome Measures
Full Information
NCT ID
NCT00432822
First Posted
February 7, 2007
Last Updated
September 19, 2007
Sponsor
Orphanetics Pharma Entwicklungs GmbH
1. Study Identification
Unique Protocol Identification Number
NCT00432822
Brief Title
Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
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
Study Type
Interventional
2. Study Status
Record Verification Date
September 2007
Overall Recruitment Status
Terminated
Study Start Date
undefined (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
Orphanetics Pharma Entwicklungs GmbH
4. Oversight
5. Study Description
Brief 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Phenylalanine Hydroxylase Deficiencies
Keywords
phenylketonuria, phenylalanine hydroxylase deficiency, BH4, responsive, tetrahydrobiopterin, newborns, infants, children, adolescents
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2, Phase 3
Interventional Study Model
Parallel Assignment
Masking
Double
Allocation
Randomized
Enrollment
50 (Anticipated)
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
tetrahydrobiopterin (BH4)
Primary Outcome Measure Information:
Title
dietary phenylalanine tolerance
Title
safety
10. Eligibility
Sex
All
Maximum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Andrea Superti-Furga, Prof.
Organizational Affiliation
Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Official's Role
Principal Investigator
12. IPD Sharing Statement
Citations:
PubMed Identifier
12501224
Citation
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.
Results Reference
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Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety
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