Research and Genetics
Unfortunately, there is no cure for CLOVES. Surgery and other types of medical interventions are the only treatments for CLOVES overgrowth, vascular anomalies and other related medical issues.
New Research Opportunity! [April 2, 2017]
This is an open label, Phase 1/2 study of oral ARQ 092 administered to patients at least 6 years of age with overgrowth diseases and vascular anomalies with genetic alterations of the PI3K/AKT pathway. The primary objective of this study is to assess the safety of ARQ 092 in subjects (at least 6 years of age) with overgrowth diseases and vascular anomalies with genetic alterations of the PI3K/AKT pathway.
The NIH created this visual for us, to help explain PIK3ca mutations and overgrowth. [March 20, 2017]
Image to explain PIK3ca mutations in CLOVES and overgrowth conditions
NIH Ongoing Research for PIK3ca mutations:
The National Institutes of Health does research testing of patients with all kinds of overgrowth.
More information here https://www.ncbi.nlm.nih.gov/gtr/tests/5534/
Responses to survey created by the National Institutes of Health from June 2014 - March 2015
Research at Boston Children's Hospital (ongoing)
Dr. Matthew Warman of Boston Children's Hospital are continuing to do research based gene sequencing for people with CLOVES. In addition, Dr. Warman's lab has mouse models with the PIK3ca mutation. The mouse models will allow researchers to learn about these disorders and to test therapies that may prevent, delay or reverse the consequences of the genetic mutation.
Opportunity for CLOVES Research (ongoing)
CLOVES Registry Recruitment Flyer
July 2014 --- Clinical Genetic Test available via Washington University
This test must be ordered by a geneticist/physician. This is somatic variant analysis by next-generation sequencing for Segmental Overgrowth, McCune Albright (SOMA) and related syndromes. The test includes concise, expert interpretations by board-certified clinical genomicists and is covered by most insurance.
Segmental Overgrowth Study (Cambridge, UK)
The SOS are a group of scientists and doctors based in Cambridge, United Kingdom and study CLOVES and related conditions featuring overgrowth of one part of the body, and normal growth elsewhere. As part of our research study we are able to screen genes that are known to cause CLOVES and thereby offer a genetic diagnosis.
For more information: http://www.overgrowthstudy.medschl.cam.ac.uk/
April 23, 2013 --- Research Opportunity with National Institutes of Health (NIH)
Announcement from CLOVES Syndrome Community
Letter from National Institues of Health
Questions and Answers about research with NIH
CLOVES Gene Mutation Discovery (5/31/12)