CDKL2

One of the primary concerns associated with the CDKL5 diagnosis is the high mortality rate linked to this condition. It remains uncertain whether this is directly attributed to the CDKL5 protein deficiency itself or the inherent challenges of the disorder.

However, recent developments have provided a glimmer of hope. Recently, a treatment plan was initiated involving medication designed for CDKL2, rather than CDKL5. CDKL5 and CDKL2 share similar functions, with CDKL5 typically taking precedence while CDKL2 remains dormant.

Collaboration with Rarebase, PBC, led to the identification of promising molecules capable of activating CDKL2. These molecules were then tested on CDKL5 mouse models at the Royal College of Surgeons in Ireland, yielding promising results. Notably, one of these molecules happened to be an FDA-approved medication already used as an adjunct therapy for epilepsy, boasting well-studied safety and efficacy profiles.

Under the guidance of a Stanford neurologist Dr. William Gallentine, an off-label prescription for this CDKL2 medication was obtained for a child and concurrently, for another child from Rainbow Children’s Hospital, in Hyderabad. Since then, significant improvements have been observed, with a major reduction in seizures and notable developmental progress. However, it’s essential to recognize that this treatment represents effective management rather than a cure.

Clinical trial (in pipeline): 

Rainbow Children’s Hospital, Hyderabad, India. 

Principal Investigators: Dr. Lokesh Lingappa & Dr. Prasanthi Aripirala.