CDKL5 Research
The CDKL5 genetic disorder was first described in 2004, and initial research studies began shortly thereafter. Early research efforts have focused on small case series reports of individuals affected by CDKL5, as well as a few attempts to characterize the CDKL5 protein, and it’s interaction with other proteins in the brain, particularly the MECP2 protein in Rett Syndrome. No definitive conclusions were reached.
Several small case series reports have attempted to describe the physical characteristics of the disorder, and establish diagnostic criteria, however, these are based on a small number of patients, and conclusions are difficult to interpret.
The majority of published information on CDKL5 is in the medical and scientific literature, written specifically for those professionals.
Research on CDKL5 is in its infancy, in terms of the quantity of research projects, and the amount of money available for such research. Yet CDKL5 remains an exciting research challenge in the scientific community, and there is renewed interest in pursuing this genetic puzzle, especially as it relates to Rett Syndrome, infantile spasms and autism.
Our foundation aims to be at the forefront of CDKL5 research, and in collaboration with leading scientists, we are on the threshold.
2013 research goals include:
Gene Therapy. IFCR is exploring gene therapy as an option, and we have begun early discussions with a leading institution and researcher in gene therapy. One of the first steps in the process is to develop a delivery system for the gene therapy, and IFCR is actively exploring these possibilities. It is important to understand that a gene therapy project , if successful from beginning to end, including clinical trials, is estimated to cost $8 million.
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. In a relatively short period of time, our goal is to test hundreds of compounds/molecules already developed to see if any of them have a positive effect on the function of CDKL5 neurons. This is an important but costly endeavor in CDKL5 research, and could help us identify treatment options for some of the serious symptoms that affect people living with CDKL5, such as seizures and gastrointestinal difficulties.
Fund three clinical projects that study seizures, bone health and the gastrointestinal system. While we are working aggressively to understand the CDKL5 protein and all its function in the brain and body, we hope to identify practical and readily accessible therapies that will help improve the physical health and quality of life of our children now.
Begin a natural history study of CDKL5 in conjunction with the development of a comprehensive CDKL5 database. A natural history study will give us a more complete picture of CDKL5 throughout a persons lifespan, and will help us identify interventions that improve the quality of life for our families, such as types of physical and speech therapies, augmentative communication, dietary changes, support services, etc.
Start a repository for biological samples from patients with CDKL5. Developing a comprehensive tissue bank can take several years. This process needs to be started as soon as possible so that tissue samples are available to scientists as the research pace accelerates.
Continued funding for ongoing studies that are attempting to identify function and targets of the CDKL5 protein. This type of laboratory research is fundamental to our understanding of how and where the CDKL5 protein works in the human brain and body. The knowledge obtained from these studies will help direct clinical and laboratory research for years to come.