CDKL5 Deficiency Disorder (CDD)

Patient Resources for

CDKL5 Deficiency Disorder (CDD)

CDKL5 Deficiency Disorder (CDD) is a serious and rare genetic disorder that is caused by a mutation of the cyclin-dependent kinase-like 5 (CDKL5) gene, located on the X chromosome.

The CDKL5 gene encodes proteins essential for normal brain function. Mutations in the gene are usually spontaneous ‘de novo’ occurrences, rather than inherited. Initially, CDKL5 mutations had been found in children diagnosed with cerebral palsy and autism, among other conditions, and the resulting disorder was classified as an early-onset seizure variant of Rett Syndrome. It is now known to be an independent clinical entity caused by mutations in a distinct X-linked gene and therefore a separate disorder with its own distinct characteristics.

Learn About the Marigold Clinical Trial

How does CDD affect the body?

CDD predominantly affects girls and is characterized by early-onset, difficult-to-control seizures and severe neuro-developmental impairment. Most children affected by CDD cannot walk, talk, or feed themselves, and many are confined to wheelchairs, dependent on others for everything. Many also suffer from scoliosis, visual impairment, sensory problems, gastrointestinal difficulties, and sleeping disorders. Currently, there are no approved therapies for CDD.

Where can I find more information on CDD?

You can find additional educational and support resources on CDKL5 Deficiency Disorder through the following foundations and patient advocacy groups:

Links to third party sites are provided for convenience purposes only. The information contained on these sites is not information provided, controlled or monitored by Marinus Pharmaceuticals in any way. Marinus Pharmaceuticals is not responsible in any way for the accuracy, completeness or fitness for any particular purpose of any content appearing on such sites.

“A Journey of Emotions as a CDKL5 Family”

A mom of a child with CDD expresses the journey of emotions endured by these families.

Read Her Story

cdd family journey

gregory

G’s Story

“Meet our special little guy G, who enjoys creating beautiful pieces of art with his mommy to help raise awareness for CDKL5.

Follow us on Facebook at Art for Hope/Love/Cure and on Instagram @artforhopelovecure.”

Read More About G and Other Stories

marigold field of dreams

Clinical Development of Ganaxolone in CDKL5 Deficiency Disorder

Marinus reported top-line data from the Phase 2 open-label study in patients with CDKL5 deficiency disorder (CDD). Oral ganaxolone, in addition to baseline treatment, showed a sizable and durable seizure-frequency reduction in the majority of patients, with some achieving an increase in the number of seizure-free days and reporting behavioral benefits.

Target Formulation

Liquid Suspension

Ganaxolone was generally safe and well-tolerated with no serious adverse events. Based upon these robust CDD clinical results and etiologic fit with ganaxolone’s mechanism of action, we have prioritized CDD as our lead pediatric orphan program for advancement into later stage clinical development.

 

Learn about the
Marigold Study

Marinus is currently enrolling patients in the Marigold Study, a global pivotal clinical study in children with CDKL5 deficiency disorder.

To learn more about the study and to determine if your child qualifies for the clinical trial, visit www.themarigoldstudy.com.

marigold study

science & pipeline

About the Science

See how ganaxolone works as a new mechanism of action.

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bibliography

Bibliography

Find publications referencing ganaxolone and its affect on seizures and neuropsychiatric disorders.

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