2. 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
3. “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?
4. 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
5. 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?
6. 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?
7. 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?
8. 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
9. 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.
10.
11. 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
12. 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
13. https://www.facebook.com/groups/CDKL5
CDKL5 Parents Support Group
https://www.facebook.com/groups/11327098209
0227/
CDKL5 Siblings Support Group
15. 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”
