Hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Phenotypes: classic phenylketonuria (PKU), mild PKU (MPK) or mild hyperphenylalaninemia (HPA). MedDRA version: 81 Level: LLT Classification code 10034873
Conditions
Interventions
Product Name: tetrahydrobiopterin
Product Code: BH4
Pharmaceutical Form: Oral solution
INN or Proposed INN: Sapropterin
CAS Number: 69056-38-8
Current Sponsor code: BH4
Other descriptive name: n.a.
Co
Sponsors
ORPHANETICS Pharma Entwicklungs- GmbH
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Inclusion criteria for the screening phase 1. Female and male patients, aged 4-18 years 2. Phenylalanine-4-hydroxylase (PAH) deficiency shown by mutation analysis 3. Blood phenylalanine concentration in the 42-240 µmol/L for patients =65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
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 ? History or current evidence of any clinically relevant cardiovascular, pulmonary, renal, gastrointestinal, haematological, endocrinological, metabolic, neurological or other diseases as judged by the investigator ? History of malignancy within the past 5 years ? Relevant chronic or relevant current acute infections ? History of orthostatic deregulation, fainting or blackout ? Abuse of alcohol or drugs ? 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 ? Patient already receiving BH4 treatment or who has received it within the last 1 month
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: 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. In patients younger than 10 years PK will be assessed.;Secondary Objective: ;Primary end point(s): Efficacy Endpoints: Dietary phenylalanine tolerance which will be assessed as the difference between the baseline phenylalanine tolerance (Phe-Tol0) and the phenylalanine tolerance at the end of BH4-treatment (Phe-Tol1). In patients younger than 10 years PK data will be assessed. Safety Endpoints: - Standard laboratory measurements, regular measurement of vital signs and the performance of physical examinations - Standard safety interview - Adverse events and serious adverse events - Deviance from blood phenylalanine target range evaluated by frequency and quantity | — |
Countries
Austria
Outcome results
None listed