7th annual UK meet with a presentation from the Segmental Overgrowth Study

On Saturday June 27th 2015 sixteen families from across the UK met up at Thames Valley Adventure Park near Maidenhead. This meeting was the seventh year that there has been a formal gathering open to all families and children with M-CM to attend.

Just like our M-CM community as a whole, the number of families that attend has increased year on year. We were particularly thrilled this year to have so many families attending for the first time and for us to have such a wide age range represented. The youngest child with M-CM there was 18 months old and the oldest was 28 years.

We were also blessed with a perfect English summer day which sometimes feels almost as rare as our children. As always the day was full of lots of fun and laughter and sharing of experiences with one another, it really is such a joy to see so many of our children all in one place and over the years it has been fantastic to see the progress that our children have made each year.

At the close of the day we were very fortunate to have Dr Victoria Parker arrive who is one of the main researchers at the Segmental Overgrowth Study (SOS) at Cambridge in the UK. Victoria spent almost 2 hours with us, providing an update of the study and some of their findings to date as well as answering our questions. This event was kindly sponsored by the M-CM Network who provided funding for the venue and dinner for all the families.

There were lots of interesting things in Victoria's presentation, too many for me to cover here, but it was great to hear people passionate about furthering the body of knowledge around rare disorders like M-CM. For those of you who are not familiar with the SOS, their key aims are to:

  • Provide genetic diagnosis of overgrowth conditions - both known and novel causes
  • Understanding the natural history of overgrowth conditions
  • Developing the best management strategies for patients
  • Promote patient and public involvement

In terms of the testing that has taken place to date 16% of participants had a clinical diagnosis of M-CM/M-CAP when signing up to the study. Victoria outlined that the genetic testing uses saliva to look for the known PIK3CA 'hotspots' they also check the AKT1, E17K and PIK3R2/CCND2 genes, this process takes around 4 weeks however if nothing is found through this testing they then look to test tissue. A next generation sequencing panel especially for overgrowth and M-CM has now been developed which looks at the genes in more detail but this process can take up to 4 months to complete.

Victoria described how the mutation in M-CM is believed to affect different pathways and what that might mean for patients, I have outlined the 'take home messages' below:

The risk is low but current guidelines have been developed and recommend abdominal ultrasound screening until the age of 8 years; details can be found in this article.

Worth being aware that low blood sugars can arise if your child is unwell.
Extensive investigations for low growth hormone levels may not be helpful for all at this stage until more can be understood about why growth hormone levels are low (although there will be exceptions to this rule; you should be guided by your paediatrician!)

They want to understand what treatments help with neurological issues

Clinical Trials

  • They are motivated to set up a clinical trial in M-CM.
  • It will take a long time to get going (possibly years) so they need to start planning now.
  • They want our involvement in the planning and decision making around how the trial might be run.
  • It is likely that the trial will involve recruiting very young patients (potentially under a year old) and it would need to run for longer periods of time to assess any potential benefits.

In addition to all of these developments in the knowledge and understanding of M-CM Victoria outlined some really exciting news for those of us within England. They are currently working with colleagues to bid for money from NHS England to set up three Segmental Overgrowth Specialist Centres, the current proposals are for these to be located in Manchester, Cambridge and London (at Great Ormond Street). The vision for these centres is that the clinical teams here would be the experts within England on M-CM and other segmental overgrowth conditions and they would be updated by the latest research from the SOS. For our children it could mean that in the future they could see all of their specialist doctors in a single hospital visit and by concentrating patients in fewer hospital locations professionals would have a deeper understanding of the condition and be able to provide better, timelier advice on diagnosis, monitoring of the condition and any additional specialists that might be needed.

Victoria finished off her session asking what our top 10 priorities for research in M-CM would be? There was lots of discussion most of which revolved around developing a better understanding of the natural history and progression of M-CM as our children aged. Following the meeting we have also highlighted to Victoria that developing a better understanding of the link between M-CM and low muscle tone and lax joints would be something that could also have significant benefits for children in the future. If you have key research questions that you would like to see explored or investigated then please leave a comment on this post and we will pass your suggestions on to the SOS team.

If you want to find out more about the SOS study including how to enrol in the study please visit