The Cambridge Rare Disease Showcase 2017

After a short networking break, Dr Jagtar Nijjar, a NIHR Clinical Lecturer at the University of Cambridge, was the first to take on the daunting five minute challenge. Jagtar’s presentation focused on his work in inflammatory bone diseases, in particular SAPHO and CNO/CRMO. Jagtar then took us through the pilot programme currently taking place in Cambridge. This programme aims to get patients into clinics, so they can collect information and samples, in the hopes of better understanding these diseases and potential treatment options. Once the pilot has proven successful, they intend to expand this programme nationally and recruit patients up and down the country.

 

As if condensing a talk into five minutes isn’t difficult enough, our next speakers – Janet Bloor and Shelley Simmonds from Action Duchenne – had the even bigger challenge of managing this between two of them. Janet and Shelley are both parents of boys with Duchenne Muscular Dystrophy, Janet’s son is now 23, whilst Shelley’s is 4. Janet was first up and spoke about the shock after her son’s initial diagnosis, aged 9, and how, as a family, they felt left with ‘no hope and no cure’. Despite this, Janet was determined to increase her knowledge and find out everything that was happening in the DMD community. Janet’s highlight was the progress research has made in the last decade, with 50 trials now active in the UK for Duchenne.

 

Next up was Jenni Evans from Costello Medical Consulting. Jenni spoke about the challenges of collecting evidence in rare diseases, and how to overcome then. As is common in rare diseases, small disease populations mean the amount of data available for a condition is often limited, meaning conventional methods of data collection don’t always work. One of the key issues Jenni highlighted was that there is an urgent need for accelerated processes in rare diseases – collecting data and analysing it as quickly as possible. Jenni then explained their process for overcoming these difficulties and their focus on gap analysis – promoting early stage development and identifying gaps in current data in order to guide future research.

Up next was David Rose, a volunteer at Cambridge Rare Disease Network. At the age of 2, David was incorrectly diagnosed with Ehlers-Danlos Syndrome and, following two years of genetic testing at Addenbrookes Hospital, was eventually diagnosed with Occipital Horn Syndrome at the end of last year. Occipital Horn Syndrome is incredibly rare, with only 20 known cases in the world, and to date, David is the only known patient in the UK. David provided an overview of Occipital Horn Syndrome, and the impact it has had on his life, including over 70 operations, continuous physical therapies, and having to leave his dream job. David now spends his time giving back to the rare diseases and medical community, working as an ambassador at GOSH, writing a book about his condition, and giving talks to medical students and universities.

Our penultimate presentation came from Richard Leach, Global Business Development Manager at Mawdsley-Brooks. A frequent concern amongst rare disease patients is accessing treatments for their conditions, particularly when there is a drug available which has not yet been approved in the UK. In this vein, Richard talked us through the guidance given to physicians when prescribing medicines, including licensed medicines, off label medicines, and named patient programmes. Under a named patient programme, a physician can request access to a medicine, on behalf of a patient, or group of patients, for a drug that has yet to be approved in their country of origin. Programmes like these are vital for rare disease patients, which, if approved, can allow them access to potentially lifesaving treatments.

 

Our final lightning talk came from Francesca Wicks, a coordinator at the Imagine-ID study. Francesca highlighted how intellectual disability is a common outcome amongst those with a rare mutation, but finding out the commonality for families affected by these conditions remains a challenge. As rare diseases most frequently affect children, Imagine-ID are working with parents to collect data, and have already recruited over 1,600 patients and parents for their study. Using online questionnaires, they generate personalised reports to help families’ interaction with professionals, and to give them access to child friendly resources, enabling easier and more informed communications to take place.