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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

PHASE2/PHASE3

Total Enrollment

50 participants

Study Classification

INTERVENTIONAL

Brief Summary

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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.

Detailed Description

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Conditions

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Phenylalanine Hydroxylase Deficiencies

Keywords

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phenylketonuria phenylalanine hydroxylase deficiency BH4 responsive tetrahydrobiopterin newborns infants children adolescents

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

DOUBLE

Interventions

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tetrahydrobiopterin (BH4)

Intervention Type DRUG

Eligibility Criteria

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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

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Principal Investigators

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Andrea Superti-Furga, Prof.

Role: PRINCIPAL_INVESTIGATOR

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

References

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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.

Reference Type BACKGROUND

PMID: 12501224 (View on PubMed)

Other Identifiers

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EudraCT Number: 2006-000648-15

Identifier Type: -

Identifier Source: secondary_id

BH4/III/05/001