CMN research update: 16th April 2009

The dedicated CMN clinic was established in June 2006 funded by the Caring Matters Now support group, and has been very successful. Children and their families are seen in a clinic focused on CMNs and the research we are doing, and it allows rapid access for new patients. The research is also greatly facilitated by seeing everyone in the same clinic, and significant new observations have been made since it started.

The first research project to get off the ground has been the genetics project. We are trying to find out if there is a gene that is not functioning properly in patients with CMNs. If we can find this gene it will help us to understand the condition much better, and ultimately to help us find treatments. We have now finished enrolling new families into this study (now 100) but are just starting to enrol families who have been involved in the long-term Registry project. All these families will receive a letter of invitation to attend a single appointment at Great Ormond Street to participate in the research should they wish. £25 will be offered to each family to assist with travel costs. In addition we are in the process of collecting a “control population” for everyone already enrolled (a control population is families who do not have anyone with a CMN). This is an extremely important part of the study, as it will allow us to interpret the genetic findings with far greater certainty. Again families involved should have received a letter about this and we would urge anyone who has not yet given out their control family letters to do so. If anyone requires replacement forms please contact Dr. Kinsler as this is a very important stage in the research.

The second research project due to start by the end of 2009 is to measure how much CMNs lighten spontaneously (without any treatments) – this project will involve children under the age of 1 and families will be contacted when it is due to start

There are other research projects in process which will be reported on as results become available.

Thanks to everyone for their support for this research. This is a process which not only requires the enormous effort made by Caring Matters Now to raise the funds required for the research, but also requires the time commitment of families to take part for it to succeed. I have been continually impressed by this commitment shown by the families involved in Caring Matters Now.

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