PIK3CA-Related Overgrowth Spectrum (PROS)

PROS stands for PIK3CA-Related Overgrowth Spectrum, which is the name for a group of conditions caused by a mutation in a gene called PIK3CA. This change in the gene leads to overgrowth of various body parts.

Rarediseases.org/pik3ca-related-overgrowth-spectrum

Symptoms vary widely and depend on which part of the body overgrows

Diagnosis of PROS is based on genetic testing for PIK3CA genetic variants. Testing for somatic conditions includes biopsy of tissue affected by overgrowth.

Vijoice (alpelisib)

 

VIJOICE (alpelisib) is a kinase inhibitor indicated for the treatment of adult and pediatric patients 2 years of age and older with severe manifestations of PIK3CA-Related Overgrowth Spectrum (PROS) who require systemic therapy. 

Vijoice.com

Patient Resources

National Organization for Rare Disorders (NORD) supports patient advocacy, education, and research.

The Cloves Syndrome Community is a non-profit organization with a goal of providing information and resources to educate others about Cloves Syndrome, to foster and promote a supportive community, and to participate in and promote Cloves Syndrome research.

The Klippel-Trenaunay Support Group provide families, adults with combined vascular malformations, and professionals with information and opportunities to connect and learn from each other through a variety of means.