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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)

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

undefined - 18 Years (Child, Adult)All SexesDoes not accept healthy volunteers

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

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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