In a late October news release from pharmaceutical company Marinus Pharmaceuticals, Inc. (“Marinus”), the company shared that it would be collaborating with the Loulou Foundation, a private UK nonprofit dedicated to advancing research into CDKL5 deficiency disorder (“CDKL5”), as well as six other biotechnology and pharmaceutical groups. Altogether, this collaboration aims to run a 3-year observational study, known as the CANDID study, to develop a better understanding of the overall impact of this disorder on patients and their families.
In particular, the CANDID study looks to learn more about the natural history of CDKL5, as well as how to assess – and potentially treat – the condition. Are current clinical assessments working or suitable for use? What is the progression and trajectory of patients? How can clinical trials best be designed to serve patients and develop therapeutic solutions? In learning these answers, researchers hope that the data will inform clinical studies not only on CDKL5 deficiency disorder but other conditions such as Angelman syndrome.
Currently, Marinus is developing ganaxolone as a potential therapeutic solution for CDKL5 deficiency disorder. This investigational therapy can be administered intravenously or orally. A decision on its approval will be available by March 20, 2022. In prior studies, ganaxolone helped reduce the frequency of seizures and was also relatively safe and well-tolerated. Marinus is looking forward to the CANDID study – not just to help patients, but to learn more about symptoms, progression, and how their treatment options can be improved moving forward.
CDKL5 Deficiency Disorder
Normally, the CDKL5 gene produces a protein crucial for adequate brain health and development. When this gene becomes mutated or defective, the body fails to produce enough CDKL5 protein. As a result, those with CDKL5 deficiency disorder have altered brain development, leading to seizures and severe developmental delays. This gene mutation occurs during embryonic development, meaning patients do not need a family history to have this disorder. Around 90% of those with CDKL5 deficiency disorder are female. Males with this rare disorder often experience more severe symptoms. Symptoms usually begin in infancy (within the first 3 months of life). These include:
- Treatment-resistant seizures
- Repetitive hand movements, such as clapping or hand-licking
- Developmental delays
- Intellectual disability
- Language difficulties / non-verbal
- Sleep disruptions
- Feeding difficulties
- Irregular breathing
- Gastrointestinal problems, such as GERD or constipation
- Tapered fingers