463
Views
0
CrossRef citations to date
0
Altmetric
Patient Engagement & Patient-Reported Outcomes

Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers

ORCID Icon, ORCID Icon & ORCID Icon
Pages 1007-1017 | Received 05 Dec 2023, Accepted 28 Mar 2024, Published online: 02 May 2024

References

  • van Spronsen FJ, Blau N, Harding C, et al. Phenylketonuria. Nat Rev Dis Primers. 2021;7(1):36. doi: 10.1038/s41572-021-00267-0.
  • Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417–1427. doi: 10.1016/S0140-6736(10)60961-0.
  • Hillert A, Anikster Y, Belanger-Quintana A, et al. The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet. 2020;107(2):234–250. doi: 10.1016/j.ajhg.2020.06.006.
  • van Spronsen FJ, van Wegberg AM, Ahring K, et al. Key uropean guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017;5(9):743–756. doi: 10.1016/S2213-8587(16)30320-5.
  • MacDonald A, van Wegberg AMJ, Ahring K, et al. PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020;15(1):171. doi: 10.1186/s13023-020-01391-y.
  • Thomas L, Olson A, Romani C. The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: a systematic review and meta-analysis of the within-participant literature. Mol Genet Metab. 2023;138(1):106969. doi: 10.1016/j.ymgme.2022.106969.
  • Cleary M, Trefz F, Muntau AC, et al. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Mol Genet Metab. 2013;110(4):418–423. doi: 10.1016/j.ymgme.2013.09.001.
  • Manti F, Nardecchia F, Paci S, et al. Predictability and inconsistencies in the cognitive outcome of early treated PKU patients. J Inherit Metab Dis. 2017;40(6):793–799. doi: 10.1007/s10545-017-0082-y.
  • Ievers-Landis CE, Hoff AL, Brez C, et al. Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregivers. J Dev Behav Pediatr. 2005;26(3):186–193. doi: 10.1097/00004703-200506000-00004.
  • MacDonald A, Gokmen-Ozel H, van Rijn M, et al. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis. 2010;33(6):665–670. doi: 10.1007/s10545-010-9073-y.
  • Sharman R, Mulgrew K, Katsikitis M. Qualitative analysis of factors affecting adherence to the phenylketonuria diet in adolescents. Clin Nurse Spec. 2013;27(4):205–210. doi: 10.1097/NUR.0b013e31829555d5.
  • Witalis E, Mikoluc B, Motkowski R, et al. Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet – multi-centre study. Nutr Metab. 2017;14(1):57. doi: 10.1186/s12986-017-0207-1.
  • Walter JH, White FJ, Hall SK, et al. How practical are recommendations for dietary control in phenylketonuria? Lancet. 2002;360(9326):55–57. doi: 10.1016/s0140-6736(02)09334-0.
  • Dubois EA, Cohen AF. Sapropterin. Br J Clin Pharmacol. 2010;69(6):576–577. doi: 10.1111/j.1365-2125.2010.03643.x.
  • European Medicines Agency. Sapropterin dipharma: summary of product characteristics. 2022 [cited 2023 Aug 28]. Available from: https://www.ema.europa.eu/en/documents/product-information/sapropterin-dipharma-epar-product-information_en.pdf
  • European Medicines Agency. Palynziq (pegvaliase): summary of product characteristics. 2019 [cited 2023 Aug 28]. Available from: https://www.ema.europa.eu/en/documents/product-information/palynziq-epar-product-information_en.pdf
  • Thomas J, Levy H, Amato S, et al. Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM). Mol Genet Metab. 2018;124(1):27–38. doi: 10.1016/j.ymgme.2018.03.006.
  • US Food and Drug Administration. Palynziq (pegvaliase-pqpz) injection for subcutaneous use: prescribing information. 2020 [cited 2023 Aug 28]. Available from: https://www.accessdata.fda.gov/drugsatfda_docs/label/2020/761079s010lbl.pdf
  • Bratkovic D, Margvelashvili L, Tchan MC, et al. PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study. Metabolism. 2022;128:155116. doi: 10.1016/j.metabol.2021.155116.
  • Manti F, Caviglia S, Cazzorla C, et al. Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria. Orphanet J Rare Dis. 2022;17(1):443. doi: 10.1186/s13023-022-02488-2.
  • Ashe K, Kelso W, Farrand S, et al. Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments. Front Psychiatry. 2019;10:561. doi: 10.3389/fpsyt.2019.00561.
  • Bosch AM, Burlina A, Cunningham A, et al. Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis. 2015;10(1):80. doi: 10.1186/s13023-015-0294-x.
  • Cazzorla C, Cegolon L, Burlina AP, et al. Quality of life (QoL) assessment in a cohort of patients with phenylketonuria. BMC Public Health. 2014;14(1):1243. doi: 10.1186/1471-2458-14-1243.
  • Huijbregts SCJ, Bosch AM, Simons QA, et al. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: a PKU-COBESO study. Mol Genet Metab. 2018;125(1-2):96–103. doi: 10.1016/j.ymgme.2018.07.002.
  • Thimm E, Schmidt LE, Heldt K, et al. Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. J Inherit Metab Dis. 2013;36(5):767–772. doi: 10.1007/s10545-012-9566-y.
  • Cazzorla C, Bensi G, Biasucci G, et al. Living with phenylketonuria in adulthood: the PKU ATTITUDE study. Mol Genet Metab Rep. 2018;16:39–45. doi: 10.1016/j.ymgmr.2018.06.007.
  • Trefz FK, van Spronsen FJ, MacDonald A, et al. Management of adult patients with phenylketonuria: survey results from 24 countries. Eur J Pediatr. 2015;174(1):119–127. doi: 10.1007/s00431-014-2458-4.
  • Firman SJ, Ramachandran R, Whelan K. Knowledge, perceptions and behaviours regarding dietary management of adults living with phenylketonuria. J Hum Nutr Diet. 2022;35(6):1016–1029. doi: 10.1111/jhn.13015.
  • Green B, Browne R, Firman S, et al. Nutritional and metabolic characteristics of UK adult phenylketonuria patients with varying dietary adherence. Nutrients. 2019;11(10):2459. doi: 10.3390/nu11102459.
  • Haitjema S, Lubout CMA, Abeln D, et al. Dietary treatment in Dutch children with phenylketonuria: an inventory of associated social restrictions and eating problems. Nutrition. 2022;97:111576. doi: 10.1016/j.nut.2021.111576.
  • Martins AM, Pessoa ALS, Quesada AA, et al. Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: results from a survey with 228 patients and their caregivers. Mol Genet Metab Rep. 2020;24:100624. doi: 10.1016/j.ymgmr.2020.100624.
  • Cotugno G, Nicolò R, Cappelletti S, et al. Adherence to diet and quality of life in patients with phenylketonuria. Acta Paediatr. 2011;100(8):1144–1149. doi: 10.1111/j.1651-2227.2011.02227.x.
  • MacDonald A, Smith TA, de Silva S, et al. The personal burden for caregivers of children with phenylketonuria: a cross-sectional study investigating time burden and costs in the UK. Mol Genet Metab Rep. 2016;9:1–5. doi: 10.1016/j.ymgmr.2016.08.008.
  • Luu S, Breunig T, Drilias N, et al. A survey of eating attitudes and behaviors in adolescents and adults with phenylalanine hydroxylase deficiency. WMJ. 2020;119(1):37–43.
  • Biasucci G, Brodosi L, Bettocchi I, et al. The management of transitional care of patients affected by phenylketonuria in Italy: review and expert opinion. Mol Genet Metab. 2022;136(2):94–100. doi: 10.1016/j.ymgme.2022.04.004.
  • Burlina A, Biasucci G, Carbone MT, et al. Italian national consensus statement on management and pharmacological treatment of phenylketonuria. Orphanet J Rare Dis. 2021;16(1):476. doi: 10.1186/s13023-021-02086-8.
  • Burlina A, Blau N. Effect of BH4 supplementation on phenylalanine tolerance. J Inherit Metab Dis. 2009;32(1):40–45. doi: 10.1007/s10545-008-0947-1.
  • Longo N, Siriwardena K, Feigenbaum A, et al. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015;17(5):365–373. doi: 10.1038/gim.2014.109.
  • Levy HL, Milanowski A, Chakrapani A, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007;370(9586):504–510. doi: 10.1016/S0140-6736(07)61234-3.
  • SriBhashyam S, Marsh K, Quartel A, et al. A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: a study of patients’ preferences. Mol Genet Metab Rep. 2019;21:100507.