In 2018 we surveyed our members to learn if they would support the ISG funding a British Paediatric Surveillance Unit (BPSU) study for Collodion and Harlequin babies.  The vast majority agreed but actually as it worked out the project was successfully funded via other sources. Thank you to everyone who participated in our survey, it was a requirement from the ethics committee at RCPCH to understand if the study was supported and thought to be beneficial by those affected by ichthyosis.

Professor Celia Moss has written an update on the progress of the study as follows:

In November 2018 doctors at Birmingham Women’s and Children’s Hospitals opened a national research project which will study all new babies born in the UK with harlequin ichthyosis (HI) or collodion membrane (CM) for 2 years from November 2018. ISG has been instrumental in getting this up and running.

HI and CM are so rare that there is no agreed pathway of medical care and every one seems to be treated differently particularly in the newborn period. It is thought that up to 50% of babies with HI die in the first 2 months, most deaths occurring in the first 3 days, but we don’t have exact data. We need to understand the factors leading to a poor outcome. CM has a lower mortality rate, and around 10% of cases resolve spontaneously. Again, we don’t know how they should best be managed and which babies will do well. We know there are at least 4 HI and 13 CM births per year in England and Wales but we need precise numbers of births and deaths to support a bid to NHS England for a national service: currently there is no national expert service as there is for other rare diseases such as epidermolysis bullosa. For all these reasons, the ISG Medical Advisory Board supported this study.

The study will be conducted through the British Paediatric Surveillance Unit. BPSU is a well established organisation that collects monthly data from all UK paediatricians. An email goes out with a list of about 10 diagnoses and doctors are asked to tick a box if they have seen a case. Some babies are sadly still-born and may not be seen by a paediatrician so we will share data confidentially with the UK National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) to identify any missing cases. It has taken almost two years to negotiate the application process and to obtain all the relevant ethical approvals for ichthyosis to be included on the BPSU list but at last it has been achieved and the BPSU study of Severe Congenital Ichthyosis in Neonates (BPSU-SCIN) has been launched. You can find more details on the study website here

ISG had generously agreed to fund this project but in the end funding was obtained from the Great Ormond Street Hospitals and SPARKS Charity. That was a competitive process and it is heartening that a national body recognises Ichthyosis as an area deserving of research.

BPSU-SCIN will be run by Professor Celia Moss and colleagues Dr Fozia Roked, Dr Catherine Taylor and Professor Andy Ewer based at Birmingham Women’s and Children’s NHSFT. We will keep members informed of results as they emerge