RSAA President recipient of an Order of Australia medal (2012)

Bill Callaghan, who has been President of RSAA since its formation in 1989, was awarded the Medal of the Order of Australia in the Honours announced by the Commonwealth Government of Australia on the Queen’s Birthday in June 2012. Bill’s daughter, Joanne, was diagnosed with Rett syndrome in 1986. She died in 2004, 11 days before her 33rd birthday.
Please click here for further information on Bill’s award

Emily Osborne is awarded Northern Territory Young Australian of the Year (2014)

Northern Territory (NT) Young Australian of the Year 2014, was 19 year old Nhulunbuy resident, Emily Osborne, for her work as a youth advocate.

A passionate advocate for young carers, Emily Osborne understands the responsibilities that rest on the shoulders of young carers. She looks after her older sister Kaia, who suffers from Rett syndrome. Emily said that Kaia has taught her to cherish every moment, and had motivated her to be the best person she can be.
Additional information on Emily’s award can be obtained by clicking on the following link: Emily Osborne – 2014 Australian of the Year Honour Roll

Insulin-Like Growth Factor 1 (IGF-1) – A potential treatment in Rett syndrome?

Research conducted at the Massachusetts Institute of Technology saw Rett syndrome mice being treated with an active peptide fragment of Insulin-Like Growth Factor 1 (IGF-1). As a result, they were found to live longer, move better, and both their heart rates and breathing patterns,mproved. A study into the treatment of Rett syndrome individuals with IGF-1 is being conducted the Children’s Hospital, Boston.

Phase 1 of a trial with IGF-1 directly involving individuals with Rett syndrome, began at the Children’s Hospital, Boston (USA), in December 2010, and basically just looked at dosage and side effects.

An update on the trial was provided in September 2012 by Dr Steven Kaminsky, Chief Scientific Officer of the International Rett Syndrome Foundation. He advised that “The initial trial was a four week phase 1 study of safety and tolerability of IGF-1 in Rett syndrome. This initial phase 1 trial was followed by a 20 week open label (i.e., everyone received IGF-1) extension of the study. During this period, the patients were monitored for safety and potential long term side-effects of IGF-1. New technologies which may be useful to demonstrate efficacy of the drug during the phase 2 trial, were also tried.

After analyzing data from phase 1 and the open label extension, the Boston team decided to narrow the inclusion criteria for phase 2. The upper age limit was reduced to 10 years, while the lower age limit was increased to 5 years. A press release at that time by the International Rett Syndrome Foundation advised that “the phase 1 trial has deemed that IGF-1 is safe and well tolerated in girls diagnosed with Rett syndrome, and the data also suggests that certain breathing and behavioral symptoms associated with Rett syndrome were ameliorated after IGF-1 treatment.” http://localhost/rettaustralia/2012/09/insulin-like-growth-factor-1-igf-1-a-potential-treatment-in-rett-syndrome/

Phase 2 is a double-blinded trial, meaning that neither the families nor the researchers know which participants are receiving IGF-1. The cross-over design of the trial means that each subject received 20 weeks of either a placebo or IGF-1 and then, after a 6-week washout period, participants received another 20 weeks of treatment but taking the drug they did not take on the first occasion. In other words, all girls enrolled in phase 2 received 20 weeks of treatment with IGF-1. The most recent announcement about Phase 2 was made in May 2014 by the Boston Children’s Hospital, a copy of which can be viewed by clicking on the following file

May 2014 – Announcement by Boston Children’s Hospital re Phase 2 of IGF-1 trial

This announcement was sourced from the website of (the International Rett Syndrome Foundation). In March 2017, a check of the Boston Children’s Hospital website by RSAA, could not find any new information about the IGF-1 trial.

RETT Syndrome Association of Australia