Results 31 to 40 of about 474 (133)

First 1.5 years of pegvaliase clinic: Experiences and outcomes

Molecular Genetics and Metabolism Reports, 2020
We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy.
Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau   +8 more
doaj   +3 more sources

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

Orphanet Journal of Rare Diseases, 2018
Background Deficiency of phenylalanine hydroxylase causes phenylketonuria (PKU) with elevated phenylalanine (Phe) levels and associated neuropsychiatric and neurocognitive symptoms. Pegvaliase (PEGylated phenylalanine ammonia lyase) is an investigational
Nicola Longo, Roberto Zori, Melissa P. Wasserstein, Jerry Vockley, Barbara K. Burton, Celeste Decker, Mingjin Li, Kelly Lau, Joy Jiang, Kevin Larimore, Janet A. Thomas   +10 more
doaj   +2 more sources

Italian national consensus statement on management and pharmacological treatment of phenylketonuria

Orphanet Journal of Rare Diseases, 2021
Background Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine.
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi   +9 more
doaj   +2 more sources

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

Clinical and Translational Science, 2021
Phenylketonuria (PKU), a deficiency in the activity of the enzyme phenylalanine hydroxylase, leads to toxic levels of phenylalanine (Phe) in the blood and brain.
Yulan Qi, Gina Patel, Joshua Henshaw, Soumi Gupta, Joy Olbertz, Kevin Larimore, Cary O. Harding, Markus Merilainen, Roberto Zori, Nicola Longo, Barbara K. Burton, Mingjin Li, Zhonghua Gu, Stephen J. Zoog, Haoling H. Weng, Becky Schweighardt   +15 more
doaj   +2 more sources

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study [PDF]

Orphanet Journal of Rare Diseases
Background Orphan drugs (ODs) are increasingly used to treat rare diseases, including inherited metabolic diseases (IMDs), but real-world access remains insufficiently characterized.
Giovanni De Antoni, Camille Kumps, Jérôme Berger, Jasmin Barman-Aksözen, Christel Tran   +4 more
doaj   +2 more sources

Fenilketonüride Yeni Bir Tedavi: Pegvaliase

, 2018
Phenylketonuria (PKU) is an autosomal recessive disease caused by deficiency in phenylalanine hydroxylase enzyme. The cornerstone of PKU therapy is dietary therapy with low phenylalanine (Phe) content. Although Phe restricted diet therapy prevents severe cognitive disorders, the dietary adherence problems experienced for both themselves and their ...
Erdal, Büşra, Caferoğlu, Zeynep
core   +4 more sources

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments [PDF]

Frontiers in Psychiatry, 2019
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin ...
Killian Ashe, Wendy Kelso, Sarah Farrand, Julie Panetta, Tim Fazio, Tim Fazio, Gerard De Jong, Gerard De Jong, Mark Walterfang, Mark Walterfang, Mark Walterfang   +10 more
doaj   +2 more sources

Re: Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]

JIMD Rep
JIMD Reports, Volume 67, Issue 4, July 2026.
Hall PL, Turgeon C, Matern D.
europepmc   +2 more sources

Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe

Orphanet Journal of Rare Diseases, 2020
Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and ...
Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold   +2 more
doaj   +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