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Orphan Disease Center International Patient Registry

CDKL5 Deficiency

CDKL5 deficiency is characterized by epileptic seizures beginning within the first three months of life, and by severe developmental delay affecting neurological functions such as motor control, speech, and cognitive ability. This disorder is caused by mutations in the CDKL5 gene which reduce or eliminate expression or function of the CDKL5 protein, an enzyme that is important for normal brain function. The CDKL5 gene is present on the X chromosome; most described CDKL5 patients are females (>80%), whereas boys with CDKL5 deficiency tend to show more severe symptoms. The seizures associated with CDKL5 deficiency are largely resistant to control with current anti-epileptic drugs. Likewise, there is no current treatment for the severe developmental delay or associated symptoms such as motor dysfunction. While an estimated 1,600 to 2,000 patients have been diagnosed with CDKL5 deficiency globally, the prevalence is likely higher due to mis- and un-diagnosed cases.

What is the Orphan Disease Center?

The Orphan Disease Center is a non-profit organization that seeks to accelerate therapeutic development for rare diseases in which there are few resources. Although we are an academic based group that exists in the infrastructure of the Perelman School of Medicine at the University of Pennsylvania, we are 100% philanthropically funded and operate differently than most academic groups. We work closely with patient groups and foundations, pharma and biotech, and the academic community to identify new treatments, as well as develop strategies to overcome the gaps and obstacles that currently exist in the clinical progression of new therapeutics.

What is the purpose of the Orphan Disease Center International Patient Registry?

The primary goals of the registry are:

  • To establish best practices in standard of care;
  • To inform clinical study design by enabling research through data sharing;
  • To represent patient needs and quality of life factors;
  • To enable rapid recruitment by connecting patients to clinical trials.

Register Your Interest – CDKL5 Deficiency

Registering your interest here will help the Orphan Disease Center International Patient Registry assess participant interest in this registry effort. Additionally, those who register here are able to receive updates regarding the progress of the full registry launch. The ODC IPR will have different language options. We do not have these enabled at this time for this registration page. Please email us if you need help with understanding the content of this page.

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Should you decide to no longer participate after registering, you will be provided with email instructions to remove yourself from our contact list.