Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.

Autor: Christ SE; University of Missouri, Columbia, MO, United States of America., Arnold G; University of Pittsburgh, Pittsburgh, PA, United States of America., Lichter-Konecki U; University of Pittsburgh, Pittsburgh, PA, United States of America., Berry GT; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America., Grange DK; Washington University School of Medicine, St. Louis, MO, United States of America., Harding CO; Oregon Health & Science University, Portland, OR, United States of America. Electronic address: hardingc@ohsu.edu., Jurecki E; National PKU Alliance, San Ramon, CA, United States of America., Levy H; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America., Longo N; University of Utah, Salt Lake City, UT, United States of America., Morotti H; Oregon Health & Science University, Portland, OR, United States of America., Sacharow S; Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America., Thomas J; Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, United States of America., White DA; Washington University in St. Louis, St. Louis, MO, United States of America.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108541. Date of Electronic Publication: 2024 Jul 22.
DOI: 10.1016/j.ymgme.2024.108541
Abstrakt: Over fifty years have passed since the last large scale longitudinal study of individuals with PAH deficiency in the U.S. Since then, there have been significant changes in terms of treatment recommendations as well as treatment options. The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium was recently established to collect a more up-to-date and extensive longitudinal natural history in individuals with phenylketonuria across the lifespan. In the present paper, we describe the structure and methods of the PHEFREE longitudinal study protocol and report cross-sectional data from an initial sample of 73 individuals (5 months to 54 years of age) with PAH deficiency who have enrolled. Looking forward, the study holds the promise for advancing the field on several fronts including the validation of novel neurocognitive tools for assessment in individuals with PKU as well as evaluation of the long-term effects of changes in metabolic control (e.g., effects of Phe-lowering therapies) on outcome.
Competing Interests: Declaration of competing interest SEC has received consulting fees from BioMarin, Jnana, and PTC; and BioMarin has funded past and current research. GA has served as a consultant for PTC Therapeutics. DKG has conducted clinical research trials for BioMarin and Synlogic related to the treatment of PAH deficiency. COH has received consulting fees from BioMarin, Jnana Therapeutics, PTC Therapeutics, Sanofi, Pfizer, Synlogic, Tessera Therapeutics, and Tome Biosciences and conducted clinical research trials for BioMarin, Jnana Therapeutics, Sanofi, and Synlogic related to treatment of PAH deficiency. EJ has served as a consultant for Jnana Therapeutics, Arcturus Therapeutics, Travere Therapeutics, and participated in advisory boards for Jnana Therapeutics and Sanofi. HL has received consulting fees from BioMarin, Sanofi, Jnana, PTC, and Tome Biosciences. NL has served on advisory boards for Amgen/Horizon, Amicus Therapeutics, Audentes/Astrellas, BioMarin, Chiesi/Protalix, Sanofi, Ipsen, Jaguar Gene Therapy, Jnana, Leadiant Biosciences, Moderna, Nestlé Pharma, PTC Therapeutics, Reneo, and Ultragenyx and has received clinical trial support from Amgen/Horizon, Amicus Therapeutics, Audentes/Astrellas, BioMarin, Chiesi/Protalix, Sanofi, Jnana, Moderna, PTC Therapeutics, Takeda, and Ultragenyx. SS has served on advisory boards and received clinical trial support from BioMarin, Synlogic, PTC Therapeutics, and Jnana Therapeutics. JT has served as a consultant for BioMarin and has received clinical trials support from PTC Therapeutics, BioMarin, and Sanofi. DAW has received clinical trial support from BioMarin.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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