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Research & 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! [10/17/17]

This study is open for recruitment at Boston Children's Hospital.  Please email us at clovessyndrome@gmail.com to obtain the email address of the contact at Boston Children's. 

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.

ArQule explains their policies on Compassionate Use outside of a clinical trial.

Video from Proteus Syndrome Foundation conference about ARQ 092.  

 

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

 

Boston Children's Hospital - Sirolimus

As of January 2017, there is no open study of a medication to treat CLOVES. There is growing experience using sirolimus to manage some symptoms and complications of CLOVES, based on studies done by Drs. Denise Adams and Cameron Trenor at Boston Children’s Hospital. Sirolimus has been most effective at controlling infections, leaking from lymphatic vesicles, bleeding and enlarging vascular masses. The decision to recommend sirolimus is based on an individual patient’s complications and should be considered with your physician.

 

NIH Ongoing Research for PIK3ca mutations:

The National Institutes of Health does research testing of patients with all kinds of overgrowth.

If you'd like to learn more, contact Julie Sappi at sappj@mail.nih.gov or Ashlyn Gruber, Research Assistant by email ashlyn.gruber@nih.gov or by phone at 301-435-6689.

More information here https://www.ncbi.nlm.nih.gov/gtr/tests/5534/

NIH Study Data (March 2015)  :  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.

https://gps.wustl.edu/patient-care/rare-disease/

 

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)

Researchers at Boston Children's Hospital identify a genetic cause for CLOVES

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