Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Journal
Nature metabolism
ISSN: 2522-5812
Titre abrégé: Nat Metab
Pays: Germany
ID NLM: 101736592
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
10
02
2023
accepted:
25
08
2023
pubmed:
29
9
2023
medline:
29
9
2023
entrez:
28
9
2023
Statut:
ppublish
Résumé
Despite available treatment options, many patients with phenylketonuria (PKU) cannot achieve target plasma phenylalanine (Phe) levels
Identifiants
pubmed: 37770764
doi: 10.1038/s42255-023-00897-6
pii: 10.1038/s42255-023-00897-6
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1685-1690Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Nature Limited.
Références
Brown, C. S. & Lichter-Konecki, U. Phenylketonuria (PKU): A problem solved? Mol. Genet. Metab. Rep. 6, 8–12 (2016).
doi: 10.1016/j.ymgmr.2015.12.004
pubmed: 27014571
Adolfsen, K. J. et al. Improvement of a synthetic live bacterial therapeutic for phenylketonuria with biosensor-enabled enzyme engineering. Nat. Commun. 12, 6215 (2021).
doi: 10.1038/s41467-021-26524-0
pubmed: 34711827
pmcid: 8553829
Isabella, V. M. et al. Development of a synthetic live bacterial therapeutic for the human metabolic disease phenylketonuria. Nat. Biotechnol. 36, 857–867 (2018).
doi: 10.1038/nbt.4222
pubmed: 30102294
van Spronsen, F. J. et al. Phenylketonuria. Nat. Rev. Dis. Primers 7, 36 (2021).
Singh, R. H. et al. Updated, web-based nutrition management guideline for PKU: an evidence and consensus based approach. Mol. Genet. Metab. 118, 72–83 (2016).
Vockley, J. et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet. Med. 16, 188–200 (2014).
doi: 10.1038/gim.2013.157
pubmed: 24385074
van Wegberg, A. M. J. et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J. Rare Dis. 12, 162 (2017).
doi: 10.1186/s13023-017-0685-2
pubmed: 29025426
pmcid: 5639803
MacDonald, A., Gokmen-Ozel, H., van Rijn, M. & Burgard, P. The reality of dietary compliance in the management of phenylketonuria. J. Inherit. Metab. Dis. 33, 665–760 (2010).
doi: 10.1007/s10545-010-9073-y
pubmed: 20373144
Eijgelshoven, I. et al. The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands. Mol. Genet. Metab. 109, 237–242 (2013).
doi: 10.1016/j.ymgme.2013.05.003
pubmed: 23731533
Romani, C. et al. Meta-analyses of cognitive functions in early-treated adults with phenylketonuria. Neurosci. Biobehav. Rev. 143, 104925 (2022).
doi: 10.1016/j.neubiorev.2022.104925
pubmed: 36283539
Hillert, A. et al. The genetic landscape and epidemiology of phenylketonuria. Am. J. Hum. Genet. 107, 234–250 (2020).
doi: 10.1016/j.ajhg.2020.06.006
pubmed: 32668217
pmcid: 7413859
Lah, M. et al. Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: evidence from dispensing data. Mol. Genet. Metab. Rep. 33, 100918 (2022).
doi: 10.1016/j.ymgmr.2022.100918
pubmed: 36176956
pmcid: 9513695
Brennan, A. M. Development of synthetic biotics as treatment for human diseases. Synth. Biol. 7, ysac001 (2022).
doi: 10.1093/synbio/ysac001
Levit, R. et al. Use of genetically modified lactic acid bacteria and bifidobacteria as live delivery vectors for human and animal health. Gut Microbes 14, e2110821 (2022).
doi: 10.1080/19490976.2022.2110821
Cook, D. P. et al. Intestinal delivery of proinsulin and IL-10 via Lactococcus lactis combined with low-dose anti-CD3 restores tolerance outside the window of acute type 1 diabetes diagnosis. Front. Immunol. 11, 1103 (2020).
doi: 10.3389/fimmu.2020.01103
pubmed: 32582188
pmcid: 7295939
Puurunen, M. K. et al. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat. Metab. 3, 1125–1132 (2021).
doi: 10.1038/s42255-021-00430-7
pubmed: 34294923
Puurunen, M. et al. Enhanced potential for Phe lowering with SYNB1934, a live biotherapeutic with an improved PAL variant. In 14th International Congress of Inborn Errors of Metabolism (Ed. Inwood, A., Selvanathan, A., Hertzog, A., Bhattacharya, K.) 245–246 (Wiley, 2021).
Swi Chang, T. M., Bourget, L. & Lister, C. A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria. Artif. Cells Blood Substit. Biotechnol. 23, 1–21 (1995).
doi: 10.3109/10731199509117665
Do, V. T., Baird, B. G. & Kockler, D. R. Probiotics for maintaining remission of ulcerative colitis in adults. Ann. Pharmacother. 44, 565–571 (2010).
doi: 10.1345/aph.1M498
pubmed: 20124461
McWhorter, N., Ndugga-Kabuye, M. K., Puurunen, M. & Ernst, S. L. Complications of the low phenylalanine diet for patients with phenylketonuria and the benefits of increased natural protein. Nutrients 14, 4960 (2022).
doi: 10.3390/nu14234960
pubmed: 36500989
pmcid: 9740314
Hang, S. et al. Bile acid metabolites control T
doi: 10.1038/s41586-019-1785-z
pubmed: 31776512
pmcid: 6949019
Lynch, S. V. & Pedersen, O. The human intestinal microbiome in health and disease. N. Engl. J. Med. 375, 2369–2379 (2016).
doi: 10.1056/NEJMra1600266
pubmed: 27974040