Results 31 to 40 of about 2,156 (206)

Sapropterin in the Treatment of Phenylketonuria

Clinical Medicine Insights: Therapeutics, 2010
Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. 1 The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; 2 ...
François Feillet, Shyue-Fang Battaglia-Hsu   +1 more
openaire   +2 more sources

Formulation and Optimization of Immediate Release Tablet of Sapropterin Dihydrochloride by Dry Granulation Process [PDF]

Journal of Drug Delivery and Therapeutics
The research aims to develop and evaluate an immediate-release dosage form of sapropterin dihydrochloride to improve efficacy, stability, and patient acceptance in treating hyperphenylalaninemia (HPA), ensuring rapid therapeutic action upon ...
T. K. Jena, R. Jat
semanticscholar   +2 more sources

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

Biologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj   +1 more source

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial [PDF]

Orphanet Journal of Rare Diseases, 2017
BackgroundSapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylketonuria.
A. Muntau, A. Burlina, F. Eyskens, P. Freisinger, C. de Laet, V. Leuzzi, F. Rutsch, H. Sivri, Suresh Vijay, M. Bal, G. Gramer, Renata Pazdírková, M. Cleary, A. Lotz-Havla, A. Munafo, D. Mould, F. Moreau-Stucker, D. Rogoff   +17 more
semanticscholar   +2 more sources

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

Molecular Genetics and Metabolism, 2009
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to deficient conversion of phenylalanine (Phe) to tyrosine and accumulation of toxic levels of Phe. A Phe-restricted diet is essential to reduce blood Phe levels and prevent long-term neurological impairment and other adverse sequelae.
Blau, N, Bélanger-Quintana, A, Demirkol, M, Feillet, F, Giovannini, M, MacDonald, A, Trefz, F K, van Spronsen, F J   +7 more
core   +7 more sources

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

Metabolism: Clinical and Experimental
AIM AMPLIPHY is the first Phase 3 study comparing sepiapterin versus sapropterin in children and adults with phenylketonuria (PKU). METHODS AMPLIPHY was an international, Phase 3, two-part, open-label study in participants with PKU aged ≥2 years ...
M. Giżewska, Anita Inwood, Renáta Tyčová, Suresh Vijay, Olivia Fjellbirkeland, F. V. van Spronsen, E. Venegas-Moreno, L. Guilder, A. Burlina, Heidi Peters, Murray Potter, U. Grošelj, A. Chakrapani, A. Bélanger-Quintana, F. Maillot, F. Rutsch, J. Arnoux, Michel C. Tchan, K. Ingalls, Zhenming Zhao, Catalina Hughes, Neil Smith, A. Muntau   +22 more
semanticscholar   +2 more sources

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
ABSTRACT Tetrahydrobiopterin (BH4; sapropterin) responsiveness in phenylalanine hydroxylase (PAH) deficiency is genotype dependent, yet many patients remain untested. Allelic phenotype values (APV) summarize allele severity, but responsiveness can be heterogeneous within APV strata. We assessed whether integrating functional consequence annotation from
Himmelreich N, Blau N.
europepmc   +2 more sources

Re-Purposing Sapropterin (Kuvan) for ACTA2-Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First-In-Human Therapeutic Report. [PDF]

Ann Clin Transl Neurol
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction.
Hausman-Kedem M, Bielopolski N, Krishnan V, Wald-Altman S, Shrian SI, Bar-Yosef O, Kapusta L, Shamber C, Musolino PL, Weil M.   +9 more
europepmc   +2 more sources

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects. [PDF]

Nutrients
Background: Evidence on the long-term impact of sapropterin in phenylketonuria (PKU) is limited. Understanding its effects on dietary restrictions, growth in children, and caregiver burden is essential to optimize PKU management.
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +2 more sources

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Longo N, Burton BK, Vaghela S, Mu F, Wang A, Smith J, Reichert E, Simpson RB, Sikirica V, Perera S.   +9 more
europepmc   +2 more sources