Participation criteria and background information
The Dutch global CMTC-OVM organization has initiated a genetic research program to determine the genetic defect causing CMTC a number of years ago which was on hold for some time.
We have collected a number of small tissues samples (biopsies) in different countries in the meantime. Now it is time to proceed with this project and at full speed! We need more biopsies to generate sufficient data for our genetic research program. In the text below we describe the criteria to participate, the biopsy, where a biopsy can be arranged, the next steps, privacy, costs and participation/information.
Criteria to participate
The main criterium is that the patient should have classic CMTC which means in this context that the patient has only CMTC and no other disease(s).
The biopsy is taken using local anaesthesia by means of an injection in the area where the biopsy will be taken. The biopsy needs to be taken in the area which has CMTC markings. The size of the biopsy is about 3 mm round and 3 mm deep.
Where can a biopsy be arranged
We offer the option to travel to Brussels, Belgium where the biopsy can be taken by Prof. Laurence Boon (N.B. they would need to make an appointment at the University Hospital Saint Luc, Center for Vascular Anomalies; https://www.saintluc.be/en/services/vascular-anomalies/index.php ). For patients living outside eg. France, Germany or the Netherlands an option could be to have a biopsy taken in a local hospital/clinic by a dermatologist or surgeon and send the biopsy to Brussels. In this case please contact us first for further (practical) details.
They would also need to sign an Informed Consent approved by the local ethics committee of the hospital where the biopsy is taken. The procedure for this can take some time!
After a biopsy has been taken the next step is to examine the DNA material for genetic defects. The collected biopsies will be used to sequence the whole exome with the aim to identify the mutated gene. Even with the advent of next-generation sequencing, this may still take months or even some years. When the gene would be identified, a full scientific report which will be published via the appropriate medical/genetic channels. Furthermore, the results will be published in layman’s terms via our website and social media channels.
Especially regarding genetic and medical data, privacy is crucial. The genetic data will be used in this research program anonymously which means that the data cannot be traced back to a person. We as organization do not have access to genetic data. All data is stored in the Human Genetics Laboratory under the laws applicable for medical/genetic data and the European General Data Protection Regulation (GDPR).
For the patient participating in our genetic research program in Brussels, no costs are involved. Patients living in eg. France, Germany and the Netherlands can travel to Brussels for the biopsy. In this case, we could as organization support the patient financially for travel costs. This needs to be determined case by case in advance. For patients living far away from Brussels, an option is to have a biopsy taken locally and send this to Brussels. We have no insight information on the costs when a biopsy is taken locally. We expect that this is rather often covered by health insurance.
Do you want to participate and/or additional information? Please contact us and use as subject ‘Genetic Research’.
The genetic research is limited to CMTC only.
This means that no research will be performed to other possible genetic abnormalities.