Results 51 to 60 of about 669 (133)

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

, 2017
Background: Sapropterin 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. The aim of the SPARK
Moreau-Stucker, Flavie, Ania C. Muntau, Muntau, Ac, Freisinger, P, De Laet, Corinne, De Laet, C, Munafo, A, Eyskens, François J M F., Vijay, S, Suresh Vijay, Mould, Diane D.R., Sivri, Hs, Burlina, A, Mould, Dr, Cleary, Maureen, Gwendolyn Gramer, Alain Munafo, Sivri, Hatice Serap, Corinne De Laet, Mould, Diane R., Eyskens, Francois, Cleary, M, Laet, Corinne de, Gramer, G, Munafo, Alain, Vijay, Suresh, Moreau Stucker, F, Lotz Havla, As, Cleary, Maureen Anne M., Rogoff, D., François Eyskens, Daniela Rogoff, Flavie Moreau-Stucker, Rogoff, Daniela, Bal, Mo, Sivri, H. Serap, Lotz-Havla, Amelie S., Vincenzo Leuzzi, Maureen Cleary, Peter Freisinger, Frank Rutsch, Muntau, Ania C., Milva Orquidea Bal, Eyskens, Fran\ue7ois, Diane R. Mould, Muntau, Ania Carolina, Burlina, Alberto, Amelie S. Lotz-Havla, Rutsch, Frank, Bal, Milva Orquidea, Rutsch, F, Freisinger, Peter, Renata Pazdírková, H. Serap Sivri, Lotz-Havla, Amelie Sophia, Gramer, Gwendolyn, Eyskens, F, Pazdírková, Renata, Leuzzi, Vincenzo, Pazdírková, R, Alberto Burlina   +60 more
core   +1 more source

Long‐Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism leading to phenylalanine (Phe) accumulation and consequent neurological, neurocognitive, and psychiatric symptoms. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, effectively reduced blood Phe in phase III studies in the United States. This multicenter,
Yoko Nakajima, Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku   +6 more
wiley   +1 more source

Treatment of phenylketonuria with sapropterin dihydrochloride

, 2015
Phenylketonuria (PKU) is an inherited disorder that increases the levels of an amino acid phenylalanine in the blood. Phenylalanine is found in all proteins and in some artificial sweeteners.Phenylketonuria is caused by mutations in the PAH gene ...
Ivanova, Natasha, Stefanova, Aleksandra, Mitsova, Dimana, Stoyanova, Elena   +3 more
core   +1 more source

A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH₄)

Gynecological Endocrinology, 2014
A woman with phenylketonuria (PKU) was diagnosed through neonatal screening, her PAH mutation was p.V388M/p.I65T, for which she received treatment with phenylalanine restriction, and was administered oral sapropterin dihydrochloride (6R-BH(4)) from the age of thirty. The purpose of this article is to describe the treatment with BH4 during her pregnancy
Luis, Aldámiz-Echevarría, Maria L, Couce, Marta, Llarena, Fernando, Andrade   +3 more
openaire   +2 more sources

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

Personalized Genotype‐Based Approach for Treatment of Phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Polina Gundorova, Behnam Yousefi, Mathias Woidy, Malcolm Summer Rose‐Heine, Robin Khatri, Viviane Kasten, Stefan Bonn, Ania Carolina Muntau, Soeren Waldemar Gersting   +8 more
wiley   +1 more source

Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association ...
Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker   +6 more
wiley   +1 more source

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria

, 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.
Demirkol, M, Bélanger-Quintana, A, MacDonald, A, Trefz, F K, F. J. van Spronsen, Blau, N, Giovannini, Marcello, A. MacDonald, N. Blau, van Spronsen, F J, Trefz, Friedrich K., F. K. Trefz, Feillet, Francois, Demirkol, Muebeccel, MacDonald, Anita, F. Feillet, M. Giovannini, Giovannini, M, Belanger-Quintana, Amaya, Feillet, F, Blau, Nenad, A. Bèlanger Quintana, van Spronsen, Francjan J., F. K. Trafz, M. Demirkol   +24 more
core   +1 more source

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear.
Raphaela Muri, Murray Bruce Reed, Stephanie Maissen‐Abgottspon, Roland Kreis, Michel Hochuli, Rupert Lanzenberger, Roman Trepp, Regula Everts   +7 more
wiley   +1 more source

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

Molecular Genetics and Metabolism Reports
Background: Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state.
Jariya Upadia, Kea Crivelly, Grace Noh, Amy Cunningham, Caroline Cerminaro, Yuwen Li, Meredith Mckoin, Madeline Chenevert, Hans C. Andersson   +8 more
doaj   +1 more source