CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by changes in the CDKL5 gene. The most common symptoms include early-onset, difficult-to-control seizures and neurodevelopmental impairment that affects cognitive, motor, speech and visual function.
Because CDD is such a rare disease, doctors are still learning about the most effective ways to treat it. The experts at Children’s Hospital of Philadelphia (CHOP) are leaders in CDD research. They share their expertise with patients and families through the CDKL5 Clinic, which was recently named a Center of Excellence.
Who we treat
Our team treats children and adults who have been diagnosed with CDKL5 Deficiency Disorder (CDD) or who have a concerning change in the CDKL5 gene that was identified through genetic testing.
The CDKL5 Clinic is part of the Division of Neurology at CHOP. The CDKL5 Clinic team is led by a pediatric neurologist who has special expertise in CDD, Eric Marsh, MD, PhD, in collaboration with a nurse practitioner and a genetic counselor. Experts from other CHOP specialties, including Gastroenterology, Hepatology and Nutrition; Rehabilitation; Occupational Therapy; and Physical Therapy are also part of our team. We also have support from a research coordinator and a clinic coordinator.
Developing a care plan
Our team reviews each patient’s medical records prior to their appointment at our clinic. After examining the patient, we develop a personalized care plan that takes into account the patient’s history, symptoms and health issues. Patients are also evaluated by our clinic’s physical and occupational therapists, who recommend the specific types of therapy that may be most helpful. If the patient was referred to our clinic by a non-CHOP doctor, we will send the referring physician a letter with detailed, personalized recommendations on managing the condition, including information on monitoring, testing, and ongoing treatment and support.
Our team also:
- Provides detailed information about CDD to families and answers any questions they have.
- Facilitates connections to CDD family support and advocacy groups.
- Provides genetic counseling to parents to help them understand the risk of having another child with CDD.
- Helps patients and families enroll in clinical research studies related to CDD, if they are interested.
If you believe you or your child would benefit from being seen in our clinic, please speak to your physician about a referral or call us at 267-426-1242.