Historically, research for CDKL5 has been limited, but as result of increased awareness and generous financial support for this rare disease, the number and caliber of research projects are growing rapidly.  CDKL5 poses an exciting challenge in the scientific community, with dozens of dedicated researchers worldwide working diligently to address the genetic and symptomatic issues related to this disease. There is significant interest in investigating CDKL5, as it is related to more widely known neurological disorders such as Rett Syndrome, infantile spasms and autism.

The incredible advances in CDKL5 research would be impossible if it were not for the tremendous efforts and organization of the International Foundation for CDKL5 Research (IFCR).  This dynamic group of parents, support staff, medical and scientific professionals has embraced the possibility that CDKL5 can be cured, and work tirelessly to improve the lives of those living with the disease.

Current International Foundation for CDKL5 Research (IFCR) goals include:
  • Gene Therapy 
  • Begin testing existing compounds via high through-put screening in iPS cells to identify possible neurologic modifiers that can then be taken into animal trials and clinical development
  • Fund three clinical projects that study seizures, bone health and the gastrointestinal system
  • Begin a natural history study of CDKL5 in conjunction with the development of a comprehensive CDKL5 database
  • Start a repository for biological samples from patients with CDKL5
  • Continued funding for ongoing studies that are attempting to identify function and targets of the CDKL5 protein
Breaking news in 2012 included the incredibly exciting development of the first CDKL5 Mouse Model in Monterotondo,Italy!  
From IFCR: It is reported that the knockout mouse shows characteristics of limb clasping, motor and respiratory disturbances at approximately six weeks of age. Also dendritic arborization was noted to be reduced in cortical neurons. This is a major advancement for CDKL5 research and promises to add significantly to the progress in finding therapeutic modalities.

Caley has participated in CDKL5 research, including a study of the physical traits of children with CDKL5. Drs.Helen Leonard and John Christodoulou teamed up with expeirenced clinical geneticist, Dr Meredith Wilson to examine the data collected in this study. 

Reading both IFCR Research Newsletters below, gives a sense of the incredible progress in research in just one short year.  

CDKL5Research-Newsletter-Aug-2011.pdf CDKL5Research-Newsletter-Aug-2011.pdf
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Research-Times-Aug-2012.pdf Research-Times-Aug-2012.pdf
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Since the beginning, we have looked to other organizations for guidance. There are so many outstanding organizations that have gone above and beyond for our family to try and make this journey a bit easier. Thank you to all of those who have been meaningful advocates along the way for our family and for Caley.

International Foundation for CDKL5 Research is dedicated to all affected by CDKL5. When Caley was diagnosed, her doctors referred us to a specific CDKL5 site. After processing the challenges that lie ahead, I logged on and instantly had tears in my eyes. The website offered support for families and incredibly, all of our stories started off the same....."around the sixth week we had our first seizure". Finally, we found others who understood our daily ups and downs in a way that no one else could. I was reassured that we do not have to endure this alone, we are all in it together. I have already learned so much from the other parents about medications, therapies and special adaptive equipment.  Most of all, I have gained a powerful sense of strength, hope  and inspiration that carries our family through each of our days and allows us to be strong for Caley and each other. The website has specific information regarding CDKL5, from research to fundraising ideas. I encourage everyone to log on and explore this incredible resource.