The study is underway!

September 2023

Greetings to all of those affected by and interested in the treatment of CPA. It is very encouraging to see the CPA Foundation gain traction. For a very rare condition like CPA, an associated charity will never be a huge affair in terms of numbers, but having worked with other rare disease charities and patient associations I firmly believe that quality beats quantity and that the most important resource are interested and engaged patients, families and their advocates. The CPA Foundation certainly has that.

I was fortunate enough to be invited, along with colleagues from Great Ormond Street Hospital, to the Boston-London-Toronto (BLT) group meeting in Boston, Massachusetts, USA this spring for an international forum. We use this opportunity to discuss clinical and research matters and the theme of this particular meeting was CPA.

It was very exciting to hear developments from both side of the Atlantic which will hopefully bring future benefits for children and adults with CPA. We heard from both basic vascular biologists and clinical scientists about research on the condition from the gene and cell to the patient level.

Perhaps most excitingly, we are very near to establishing a trilateral database which will allow anonymised data (with consent from patients) such as scans, blood tests and genetic information to be shared across the three sites.

One of the main problems with studying rare conditions like CPA is that it can be difficult to draw conclusions from small numbers of cases. Collaborations like this allow much more powerful and definitive studies to be undertaken. I am confident that this approach will increase our knowledge and understanding of CPA, allow us to inform patients and families better, and in time will lead to better treatments of this difficult disease.

As well as the busy academic programme, our hosts Dr Smith and Dr Orbach at the Boston Children’s Hospital Cerebrovascular Surgery and Intervention Centre kept us busy on the social side, with a lovely seafood dinner followed next morning by paintballing, at which attendance was unforutnately not optional! I managed to get a hit on my GOSH neurovascular surgery colleague Mr Silva but he soon replied in kind. A sore afternoon all round!

Greg James, Paediatric Neurosurgeon, Great Ormond Street Hospital, London, UK