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

Orphanetics

Status and phase

Terminated

Phase 3

Phase 2

Conditions

Phenylalanine Hydroxylase Deficiencies

Treatments

Drug: tetrahydrobiopterin (BH4)

Study type

Interventional

Funder types

Industry

Identifiers

NCT00432822

EudraCT Number: 2006-000648-15

BH4/III/05/001

Details and patient eligibility

About

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.

Enrollment

50 estimated patients

Sex

All

Ages

Under 18 years old

Volunteers

No 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