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

This study has been terminated.
Information provided by:
Orphanetics Pharma Entwicklungs GmbH Identifier:
First received: February 7, 2007
Last updated: September 19, 2007
Last verified: September 2007
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.

Condition Intervention Phase
Phenylalanine Hydroxylase Deficiencies Drug: tetrahydrobiopterin (BH4) Phase 2 Phase 3

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Double-Blind
Primary Purpose: Treatment
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

Resource links provided by NLM:

Further study details as provided by Orphanetics Pharma Entwicklungs GmbH:

Primary Outcome Measures:
  • dietary phenylalanine tolerance
  • safety

Estimated Enrollment: 50

Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00432822

Sponsors and Collaborators
Orphanetics Pharma Entwicklungs GmbH
Principal Investigator: Andrea Superti-Furga, Prof. Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
  More Information

Publications: Identifier: NCT00432822     History of Changes
Other Study ID Numbers: BH4/III/05/001
EudraCT Number: 2006-000648-15
Study First Received: February 7, 2007
Last Updated: September 19, 2007

Keywords provided by Orphanetics Pharma Entwicklungs GmbH:
phenylalanine hydroxylase deficiency

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases processed this record on August 16, 2017