Follow-up of Prader Willi Syndrome Infants Treated by Oxytocin and Comparison With Not-treated Infants.

Summary

The objective of this study is to collect data on tolerance and effects of early treatment with oxytocin in children with Prader Willi Syndrome aged from 3 to 4 years and to compare these infants with not treated age-matched infants with Prader Willi Syndrome.

Timeline

Start

2017-01

Primary completion

2018-05

Completion

2018-12

Outcome

Missed primary endpoint

paper The VABS-II communication score was not different between the two groups, defined as OT-exposed and non-exposed PMID 40025514 ↗

Publications

• Background Amico JA, Vollmer RR, Cai HM, Miedlar JA, Rinaman L. Enhanced initial and sustained intake of sucrose solution in mice with an oxytocin gene deletion. Am J Physiol Regul Integr Comp Physiol. 2005 Dec;289(6):R1798-806. doi: 10.1152/ajpregu.00558.2005. Epub 2005 Sep 8.
• Background Arletti R, Benelli A, Bertolini A. Oxytocin inhibits food and fluid intake in rats. Physiol Behav. 1990 Dec;48(6):825-30. doi: 10.1016/0031-9384(90)90234-u.
• Background Billings LB, Spero JA, Vollmer RR, Amico JA. Oxytocin null mice ingest enhanced amounts of sweet solutions during light and dark cycles and during repeated shaker stress. Behav Brain Res. 2006 Jul 15;171(1):134-41. doi: 10.1016/j.bbr.2006.03.028. Epub 2006 May 4.
• Background Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A. 2007 Mar 1;143A(5):430-42. doi: 10.1002/ajmg.a.31606.
• Background Dykens EM, Lee E, Roof E. Prader-Willi syndrome and autism spectrum disorders: an evolving story. J Neurodev Disord. 2011 Sep;3(3):225-37. doi: 10.1007/s11689-011-9092-5. Epub 2011 Aug 20.
• Background Dykens EM, Maxwell MA, Pantino E, Kossler R, Roof E. Assessment of hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring). 2007 Jul;15(7):1816-26. doi: 10.1038/oby.2007.216.
• Background Dykens EM, Roof E, Hunt-Hawkins H. Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. J Child Psychol Psychiatry. 2017 Jan;58(1):64-74. doi: 10.1111/jcpp.12601. Epub 2016 Aug 2.
• Background Goldstone AP, Holland AJ, Butler JV, Whittington JE. Appetite hormones and the transition to hyperphagia in children with Prader-Willi syndrome. Int J Obes (Lond). 2012 Dec;36(12):1564-70. doi: 10.1038/ijo.2011.274. Epub 2012 Jan 24.
• Background Guastella AJ, Einfeld SL, Gray KM, Rinehart NJ, Tonge BJ, Lambert TJ, Hickie IB. Intranasal oxytocin improves emotion recognition for youth with autism spectrum disorders. Biol Psychiatry. 2010 Apr 1;67(7):692-4. doi: 10.1016/j.biopsych.2009.09.020. Epub 2009 Nov 7.
• Background Hall SS, Lightbody AA, McCarthy BE, Parker KJ, Reiss AL. Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome. Psychoneuroendocrinology. 2012 Apr;37(4):509-18. doi: 10.1016/j.psyneuen.2011.07.020. Epub 2011 Aug 20.
• Background Kosfeld M, Heinrichs M, Zak PJ, Fischbacher U, Fehr E. Oxytocin increases trust in humans. Nature. 2005 Jun 2;435(7042):673-6. doi: 10.1038/nature03701.
• Background Lischke A, Gamer M, Berger C, Grossmann A, Hauenstein K, Heinrichs M, Herpertz SC, Domes G. Oxytocin increases amygdala reactivity to threatening scenes in females. Psychoneuroendocrinology. 2012 Sep;37(9):1431-8. doi: 10.1016/j.psyneuen.2012.01.011. Epub 2012 Feb 23.
• Background McDonald NA, Kuzmiski JB, Naderi N, Schwab Y, Pittman QJ. Endogenous modulators of synaptic transmission: cannabinoid regulation in the supraoptic nucleus. Prog Brain Res. 2008;170:129-36. doi: 10.1016/S0079-6123(08)00412-3.
• Background Meziane H, Schaller F, Bauer S, Villard C, Matarazzo V, Riet F, Guillon G, Lafitte D, Desarmenien MG, Tauber M, Muscatelli F. An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism. Biol Psychiatry. 2015 Jul 15;78(2):85-94. doi: 10.1016/j.biopsych.2014.11.010. Epub 2014 Nov 20.
• Background Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May;155A(5):1040-9. doi: 10.1002/ajmg.a.33951. Epub 2011 Apr 4.
• Background Salles J, Strelnikov K, Carine M, Denise T, Laurier V, Molinas C, Tauber M, Barone P. Deficits in voice and multisensory processing in patients with Prader-Willi syndrome. Neuropsychologia. 2016 May;85:137-47. doi: 10.1016/j.neuropsychologia.2016.03.015. Epub 2016 Mar 16.
• Background Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. Hum Mol Genet. 2010 Dec 15;19(24):4895-905. doi: 10.1093/hmg/ddq424. Epub 2010 Sep 28.
• Background Skokauskas N, Sweeny E, Meehan J, Gallagher L. Mental health problems in children with prader-willi syndrome. J Can Acad Child Adolesc Psychiatry. 2012 Aug;21(3):194-203.
• Background Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Clin Endocrinol Metab. 1995 Feb;80(2):573-9. doi: 10.1210/jcem.80.2.7852523.
• Background van Lieshout CF, de Meyer RE, Curfs LM, Koot HM, Fryns JP. Problem behaviors and personality of children and adolescents with Prader-Willi syndrome. J Pediatr Psychol. 1998 Apr;23(2):111-20. doi: 10.1093/jpepsy/23.2.111.
• Valette M, Diene G, Glattard M, Cortadellas J, Molinas C, Faye S, Benvegnu G, Boulanouar K, Payoux P, Salles JP, Arnaud C, Cabal S, Tauber M. Early oxytocin treatment in infants with Prader-Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes. Orphanet J Rare Dis. 2025 Mar 1;20(1):96. doi: 10.1186/s13023-025-03560-3.

Drugs

Indications