Set up in 2009 by a group of Parents all of which met through the Yahoo Group for CDKL5 Parents

Current Board of Directors

◦ Katheryn Frame – President, Melissa Ralston – Secretary, Karen Utley – Treasurer, Kelly Barnes, Kristin Leopoldino, Kimberley Nothurft, Carol-Anne Partridge

Scientific Advisory Board

◦ David Frame, PhD, University of Michigan

◦ Dr Sumit Parikh, MD, The Cleveland Clinic

◦ Dr Walter E Kauffman MD, John Hopkins/Kennedy Krieger

“To lead the way in finding a cure and treatments for CDKL5

disorders by funding global research efforts, and increasing

awareness of CDKL5 disorders, while enhancing the quality of

life for those affected by CDKL5 disorders, by providing

information, programs, and services”

How are we achieving

this?

Committed band of Parents and families raising vast amounts of money collectively ◦ From small events to large events

Pepsi Grant – for iPS Cells with remainder used to create video/media

IFCR Shop – www.cdkl5.com

Registration to become Partner, Active Partner attracting a $20 donation which attracts benefit, or corresponding partner

Induced Pluripotent Stem Cells (iPS)

◦ Fibroblasts derived from Skin Cells

Taken 6 affected Boys with CDKL5

One girl with a specific CDKL5 mutation

◦ Pluripotent – Means the ability to grow into any cell in the body including Neurons

◦ The IFCR is currently working with Dr Alysson Muotri at the University of California in San Diego, who is having success with several lines

So where are we today?

Development of Knock-out Mouse Model - ◦ Knock-out Mouse, genetically created without the

CDKL5 Gene ◦ Critical in studying disorders like CDKL5 ◦ Co-funded with International Rett Syndrome

Foundation ◦ Funding – Dr Cornelius Gross and his fellow Dr

Elena Amendola – Italy Currently FDA mandates that new drugs be tested

on animal models with positive results before human trials are allowed

So where are we today?

Second Mouse Model ◦ Knock-in Mouse ◦ Specific Non-sense mutation (R59X) seen in at least

5 children with CDKL5 (including one boy) ◦ Will be used in conjunction with iPS lines created by

2 children with R59X mutation one boy and one girl ◦ Benefits – New drugs already being developed Ability to test to see affects on mice and potential

therapeutic and developmental gains for our children

◦ Funding – Dr Joe Zhou from the University of Pennsylvania

So where are we today?

An IFCR Part-Funded Initiative

Little is known about the natural history and occurrence of the CDKL5 disorder

A group of researchers in Australia in collaboration with the International Foundation for CDKL5 Research are planning on developing an International Register for the CDKL5 Disorder

They hope that this register will allow the collection of better information on the CDKL5 disorder from families and their clinician across the world

If you are interested in participating you can complete a questionnaire through the International Rett Syndrome Phenotype Database (InterRett) or contact them on

• Website: https://interrett.ichr.uwa.edu.au//?q=/rett/irsa/

• Email: CDKL5@ichr.uwa.edu.au

• Phone: +61 419956946

A new questionnaire is being developed and will be available for completion in early 2012.

There will also be follow-up questionnaires on a yearly basis and the potential for sharing video information.

Charitable Fund ◦ Operating within Rett UK

◦ An Alliance with Rett UK and the IFCR

Aims ◦ To raise the profile and awareness of the condition

in the UK and worldwide

◦ To reach out to families in the UK living with the diagnosis of CDKL5

◦ To fundraise for research for the IFCR

◦ To collaborate with Rett UK and the IFCR to create a signposting support structure

http://uk.groups.yahoo.com/group/CDKL5 The first parent support group set up by a UK

mum in 2005. A closed group accessed by request or

by invitation has around 160 global members to

date. Including Professor Christodoulou who is

involved in vital research into CDKL5

www.cdkl5.com The birth of the International Foundation for CDKL5

Research, started by US and Leita Boltwood, from

Australia families brought together by the yahoo

parent support group

https://www.facebook.com/groups/CDKL5

CDKL5 Parents Support Group

https://www.facebook.com/groups/113270982090227/

CDKL5 Siblings Support Group

Support you can touch….

Raising Awareness

Fundraising

Finding other affected families

Allowing our children to flourish

“………and so here we are, giving hope through research and support to families within the UK living with CDKL5”

‘So…...keep facing the sun and the

Shadows of life will always be behind you’

For them….