Unfortunately, there is no cure for CLOVES. Surgery and other types of medical interventions are the primary treatments for CLOVES overgrowth, vascular anomalies and other related medical issues. Please read below about research opportunities and new targeted treatment medications to treat CLOVES/PROS.
This is a prospective Phase II multi-center study with an upfront 16-week, randomized, double-blind, placebo-controlled period, and extension periods, to assess the efficacy, safety and pharmacokinetics of alpelisib in pediatric and adult participants with PIK3CA-related overgrowth spectrum (PROS). Enrollment is expected to begin in February of 2021.
The genetics of AVMs are poorly understood, and many theories currently exist with regards to their development, including the hypothesis that their development begins early in gestation. Kahle Lab is actively recruiting patients with brain or spinal cord AVMs and their families. Participants must have a formal diagnosis based on imaging. This study is currently open to people in the United States.
If you are interested in participating, please email [email protected] with the following information:
1. Mailing Address or Addresses where the swabs and paperwork will be sent
2. Active contact telephone number
3. Full Names and Ages of participants at each address that will provide DNA samples in your household
4. Previously referred to genetics? If so, findings?
Compassionate Use Access of PIQRAY (formerly BYL719/alpelisib) [7-9-19]
The Novartis Managed Access Program (MAP) for PIQRAY use in PROS is available to patients in the US where PIQRAY is available for commercial use (as well as other countries where not approved).
The FDA approved PIQRAY for HR+/HER2- advanced breast cancer, and thus PROS patients may seek access to the medication through MAP.
Patients should contact their treating physicians who can, if clinically appropriate, make a request to Novartis for access to treatment using this link on the Novartis website https://www.novartis.com/our-focus/healthcare-professionals/managed-access-programs
New Research Opportunity: MOSAIC - ARQULE [6-5-19]
ArQule is currently conducting the MOSAIC (Miransertib in Overgrowth Syndromes in Adults and Children) clinical trial for patients who have been diagnosed with either Proteus syndrome (PS), which involves a mutation in the AKT gene, or those who have been diagnosed with one of a number of distinct overgrowth disorders characterized by a mutation in the PIK3CA gene, referred to as PIK3CA-related overgrowth spectrum (PROS). There are currently no approved medicinal treatments for PS and PROS, leaving patients with minimal treatment options. ArQule was purchased by Merck in January of 2020.
The MOSAIC trial aims to determine whether miransertib, a drug which inhibits the biological pathway that both AKT and PIK3CA mutations affect, can effectively treat patients who are diagnosed with overgrowth syndromes associated with these mutations.
Based on the mechanism of action of miransertib, trial participants must have a mutation in either the AKT1 or PIK3CA gene to be eligible to participate in the MOSAIC trial. Learn more about how miransertib works below.
- For more information, please visit the Clinical Trial page
- Additional information about the MOSAIC trial can be found here.
New Research Opportunity: BYL719/NOVARTIS [6-13-18]
A medical first: CLOVES Syndrome and overgrowth syndromes:remarkable improvement in the health of 19 pediatric and adult patients using a new therapeutic strategy called Alpelisib BYL719. Dr. Guillaume Canaud at the Necker-Enfants Malades Hospital – AP-HP, the Paris Descartes University, Inserm (INEM Institute Necker Enfants Malades – Centre for Molecular Medicine) and his team recently demonstrated the efficacy of a novel medication, a specific inhibitor called BYL719, in a cohort of 19 patients treated at the Necker-Enfants Malades Hospital – AP-HP and suffering from CLOVES Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformation, Epidermal Naevi) or similar disorders.
Opportunity for CLOVES Research (ongoing)
April 23, 2013 - Research Opportunity with National Institutes of Health (NIH)