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)

Treatment of hyperphenylalaninemia with Sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) and its influence on the amino acids and fatty acids patterns from childhood to adulthood, a Phase IV, longitudinal, unblinded, controlled, single-centre, retrospective and prospective clinical study

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

ISRCTN

Registry ID

ISRCTN77098312

Enrollment

Registered

2011-04-18

Start date

2009-03-12

Completion date

Unknown

Last updated

2015-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hyperphenylalaninemia (HPA) Nutritional, Metabolic, Endocrine Hyperphenylalaninemia (HPA)

Interventions

1. Male and female patients with hyperphenylalaninemia secondary to phenylalanine hydroxylase deficiency, controlled in the Metabolism Unit at Children's Hospital Miguel Servet, who respond to treatme

Eligibility

Sex/Gender

All

Inclusion criteria

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

Exclusion criteria: 1. Liver impairment or other underlying chronic disease that may require regular treatment 2. Pregnancy and breastfeeding

Design outcomes

Primary

Measure	Time frame
1. Every four months biochemical analysis of total amino acids and essential fatty acids as indicators of quality 2. Amino acids levels were analyzed by HPLC (cation-exchange high performance liquid chromatography) 3. The levels of essential fatty acids were determined by gas-liquid chromatography	—

Secondary

Measure	Time frame
1. Prevalence in our population of patients with hyperphenylalaninemia who respond to Sapropterin 2. Correlation between a type of mutation and the response to Sapropterin 3. Relationship in our population between the response to Sapropterin and the severity of biochemical phenotype and genotype 4. Profile of total and essential amino acids and fatty acids on patients treated with Sapropterin versus patients treated with diet. Liberalization of phenylalanine-free diet as much as possible 5. Diet liberalization will be assessed by increasing the amounts of Phe on the daily diet and controlling at the same time the Phe blood level is within the appropriate limits (less than 240 nmol/ml in children under 6 year-old, less than 360 nmol/ml in children of 6-10 year-old, and less than 500 nmol/ml in older than 10)	—

Measure

Time frame

1. Prevalence in our population of patients with hyperphenylalaninemia who respond to Sapropterin 2. Correlation between a type of mutation and the response to Sapropterin 3. Relationship in our population between the response to Sapropterin and the severity of biochemical phenotype and genotype 4. Profile of total and essential amino acids and fatty acids on patients treated with Sapropterin versus patients treated with diet. Liberalization of phenylalanine-free diet as much as possible 5. Diet liberalization will be assessed by increasing the amounts of Phe on the daily diet and controlling at the same time the Phe blood level is within the appropriate limits (less than 240 nmol/ml in children under 6 year-old, less than 360 nmol/ml in children of 6-10 year-old, and less than 500 nmol/ml in older than 10)

—

Countries

Spain

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026