NCT00432822

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.

Trial Health

10
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for phase_2

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 7, 2007

Completed
1 day until next milestone

First Posted

Study publicly available on registry

February 8, 2007

Completed
Last Updated

September 20, 2007

Status Verified

September 1, 2007

First QC Date

February 7, 2007

Last Update Submit

September 19, 2007

Conditions

Phenylalanine Hydroxylase Deficiencies

Keywords

phenylketonuriaphenylalanine hydroxylase deficiencyBH4responsivetetrahydrobiopterinnewbornsinfantschildrenadolescents

Outcome Measures

Primary Outcomes (2)

  • dietary phenylalanine tolerance

  • safety

Interventions

tetrahydrobiopterin (BH4)DRUG

Eligibility Criteria

AgeUp to 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (1)

  • 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.

    PMID: 12501224BACKGROUND

MeSH Terms

Conditions

Phenylketonurias

Interventions

sapropterin

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Andrea Superti-Furga, Prof.

    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
RANDOMIZED
Masking
DOUBLE
Purpose
TREATMENT
Intervention Model
PARALLEL
Sponsor Type
INDUSTRY

Study Record Dates

First Submitted

February 7, 2007

First Posted

February 8, 2007

Last Updated

September 20, 2007

Record last verified: 2007-09