Treatment of hyperphenylalaninemia with Sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) and its influence on the amino acids and fatty acids patterns from childhood to adulthood (Tratamiento de la hiperfenilalaninemia con dihidrocloruro de Sapropterina [tetrahidrobiopterina, 6r-bh4] y su influencia en el patrón de aminoácidos y ácidos grasos desde la infancia hasta la edad adulta)
Completed
- Conditions
- Hyperphenylalaninemia (HPA)Nutritional, Metabolic, Endocrine
- Registration Number
- ISRCTN77098312
- Lead Sponsor
- Aragon Institute of Health Sciences [Instituto Aragonés de Ciencias de la Salud] (Spain)
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- All
- Target Recruitment
- 30
Inclusion Criteria
1. Patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency, who respond to treatment with Sapropterin
2. Childbearing women who should have a negative pregnancy test within 7 days prior to start of treatment with Sapropterin and should use reliable contraception during the whole study
3. The control group will include patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency that are metabolically well controlled without Sapropterin
Exclusion Criteria
1. Liver impairment or other underlying chronic disease that may require regular treatment
2. Pregnancy and breastfeeding
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method