‘‘It’s Something I Need to Consider” Decisions About Carrier Screening for Fragile X Syndrome in a Population of Non-Pregnant Women – Archibald AD, Jaques AM, Wake S, Collins VR, Cohen J, Metcalfe SA. 2009 – Am J Med Genet Part A 149A:2731–2738

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As some of you may be aware, part of our fundraising efforts come in the shape of the very exciting Entertainment Book each year. This book contains endless discount coupons from brands such as Hoyts, Grill’d, Dan Murphy’s, Coles and so much more!!

For only $65 you receive over $15,000 of valuable offers! In addition, $13 from each book goes to us, Fragile X Alliance Inc!

If you would like more information, please contact Sarah by email sarahlborrie@hotmail.com.

Monash University are seeking to recruit individuals who carry the premutation (PM) for FXS. For more information, please contact Claudine Kraan on (03) 9902 4162 or claudine.kraan@monash.edu

The Murdoch Childrens Research Institute is participating in a clinical trial testing a new treatment for Fragile X syndrome in adolescents. The treatment is a capsule and the medication is taken twice daily for up to 16 weeks.

To be eligible to participate in the trial, patients must fit the following criteria:

• Be aged 12-17 in otherwise good general health.
• Have a previous diagnosis of Fragile X based on genetic testing (full mutation)
  • Have a caregiver who spends on average at least 6 hours a day with the study participant and is willing to supervise treatment, attend all study visits and assist with study assessments
  • Have a documented intellectual disability (IQ score less than 70)

The study lasts for a total of 20 weeks and includes a 3-week screening period, 16 weeks during which patients will receive study drug and a one week follow up. All patients will receive a placebo at some stage during the study.

If you would like more details on the trial, please contact Dr Eppie Yiu on 8341 6367, or Ms Geneieve Tai 8341 6374 at the Murdoch Childrens Research Institute.

Fragile X Alliance Inc. and the Murdoch Childrens Research Institute are participating in a clinical trial testing a new treatment for Fragile X syndrome. The treatment is a capsule and the medication is taken twice daily for 12 weeks. 

To be eligible to participate in the trial, patients must fit the following criteria:

• Be aged 18-45 in otherwise good general health.  If female, you must be willing to use contraception for the duration of the study.
• Have a previous diagnosis of Fragile X based on genetic testing (full mutation)
• Have a caregiver who spends on average at least 6 hours a day with the study participant and is willing to supervise treatment, attend all study visits and assist with study assessments
• Have a documented mild to moderate intellectual disability (IQ score less than 70)

The study lasts for a total of approximately 21 weeks and includes a 4-week screening period, up to 16 weeks’ treatment and one week follow up

If you would like more details on the trial, please contact the Fragile X Alliance Inc. on 03 9528 1910.

Hello Everybody,

It is that time of year again, where we ask you to renew your annual membership to the Fragile X Alliance (FXA) Inc.

A small expense ($44) goes a long way to helping us provide medical and educational support to the fragile  X community.

Dear all,

I hope everyone is doing well. In light of recent reviews of our clinic operation, we have made a few changes to our clinic preparation. Please note the following changes:

- instead of booking clinics prior to other requirements, we will now be requiring patients to complete all preclinic steps (including appointments and paperwork) PRIOR to confirming a date for a clinic. This will ensure the specialists are adequately prepared for the clinic, in order to provide our families with the best care possible.

Any other changes made are small and will not affect the experience of patients.

Should you have any questions, please do not hesistate to contact us via telephone (+61 3 9528 1910) or email (jcohen@travelclinic.com.au or sarahlborrie@hotmail.com)

Thank you

Ritchies has generously added our organisation to their list of donation recipients. All you need to do is nominate our organisation and when you shop at any Ritchies store, a percentage of the profit goes to us to continue our work in supporting and educating families with Fragile X Syndrome. More details on the Ritchies site

As  our DNA testing technology improves, we have been able to focus on the genetic cause of Fragile  X syndrome.

Older techniques, originaly looking at the chromosome (package of many genes), used to identified an additional cause for Fragile X syndrome – Frax E. Although it is caused by a different gene on the X chromosome, Frax E causes similar phenotype/symptoms.

This highlights the ongoing importance of considering other causes of ‘X-linked intellectual disability’ if diagnosis has not been made in children with intellectual disability.