About the Disease
CDKL5 deficiency disorder (CDD) is a serious and rare genetic disorder caused by a cyclin-dependent
kinase-like 5 (CDKL5) gene mutation. The CDKL5 gene is located on the X chromosome and is responsible for processing essential proteins for normal brain function and neuron development. CDD affects 1 in 40,000 to 60,000 newborns, primarily females, and is characterized by early-onset, difficult-to-control seizures and severe neuro-developmental impairment. Many children diagnosed with CDD also experience scoliosis, visual impairment, sensory problems, gastrointestinal difficulties, and sleeping disorders. Most CDKL5 gene mutations are "de novo," meaning that they occur spontaneously and are not passed down through families.
Seizures are a significant problem for patients with CDD because they are usually severe and difficult to treat. More than 30 different types of seizures have been identified, including infantile spasms, myoclonic and tonic-clonic seizures.
About our Patient Care
Our dedicated Care Team will work with the physician's office and insurance on a patient's behalf to give our patients more time to focus on their treatment and quality of life. We are here to listen, provide counseling on treatment, including side-effect management, and assist with sourcing third-party financial assistance. In addition, Orsini is the only specialty pharmacy with access to the first FDA-approved prescription medicine indicated specifically for seizures associated with CDKL5 deficiency disorder (CDD) in people two years of age and older.
As part of treatment, we provide:
Dedicated Care Team
We provide prescribers and patients with a dedicated CDD Care Team, including a primary pharmacy contact, clinical education, side-effects management, scheduled refill calls, and a direct phone, fax, and email address.
Shipping and Coordination of Care
We provide free overnight delivery of medications and necessary medical supplies and manage the coordination of care between prescribers, sites of care, nurses, and patients to ensure dispenses and drug delivery align with the date and location of service.
We successfully identify and assist in enrolling patients into manufacturer co-pay and foundation support programs to minimize a potential financial burden to patients given the high cost of specialty medications.
24/7/365 Access to a Pharmacist
We provide prescribers and patients access to a pharmacist 24/7/365 to ensure patients always have access to the care they need.
Click on the specialty drug name below to expand and see more information.