PIK3CA-Related Overgrowth Spectrum Overview

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Learn About PIK3CA-Related Overgrowth Spectrum

What is the definition of PIK3CA-Related Overgrowth Spectrum?
PIK3CA-related overgrowth spectrum is a term used to describe a group of rare genetic disorders that cause an overgrowth of body parts. This overgrowth of body parts is caused by mutations in the PIK3CA gene that assists in cell growth.
What are the symptoms of PIK3CA-Related Overgrowth Spectrum?
Symptoms of PIK3CA-related overgrowth spectrum disorders depend on the subtype. Symptoms of PIK3CA-related overgrown spectrum disorders can include overgrowth of muscles, fingers, toes, arms, legs, trunk, or brain; intellectual disability; autism; language disorders; seizures; blood clots; lip malformation; face and neck malformation; fatty tissue overgrowth; vascular malformations; moles; bone abnormalities; port-wine stains; prominent veins; pulmonary embolism; scoliosis; spinal cord compression; kidney abnormalities; gastrointestinal bleeding; genitourinary tract bleeding; heart failure; extra fingers or toes; lipomas; enlarged teeth; enlarged tongue; neuromas; lymphatic malformations; and nerve disorders.
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What are the current treatments for PIK3CA-Related Overgrowth Spectrum?
Treatment for PIK3CA-related overgrowth spectrum disorders depends on the subtype and the symptoms. Treatments for PIK3CA-related overgrowth spectrum disorders may include targeted therapy, such as alpelisib; laser ablation; sclerotherapy; anticoagulation therapy; surgery; orthotics; brain shunt placement; anti-seizure medications; physical, occupational, and speech therapy; and special education.
Who are the top PIK3CA-Related Overgrowth Spectrum Local Doctors?
Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Hayley F. Klein
Ophthalmology | General Surgery
Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Hayley F. Klein
Ophthalmology | General Surgery

Sanford Medical Center

1621 S Minnesota Ave, 
Sioux Falls, SD 
605-328-9200
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Hayley Klein is an Ophthalmologist and a General Surgeon in Sioux Falls, South Dakota. Dr. Klein is rated as an Experienced provider by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. Her top areas of expertise are Strabismus, Astigmatism, Amblyopia, and Oculomotor Apraxia Cogan Type. Dr. Klein is currently accepting new patients.

Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Winfield S. Fisher
Neurosurgery
Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Winfield S. Fisher
Neurosurgery

University Of Alabama Health Services Foundation, PC

619 19th St S, 
Birmingham, AL 
205-934-4011
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Winfield Fisher is a Neurosurgery provider in Birmingham, Alabama. Dr. Fisher is rated as an Experienced provider by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. His top areas of expertise are Brain Aneurysm, Cerebellum Agenesis Hydrocephaly, Hydrocephalus, Awake Craniotomy, and Gastrostomy. Dr. Fisher is currently accepting new patients.

 
 
 
 
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Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Jun T. Park
Pediatric Neurology | Neurology
Experienced in PIK3CA-Related Overgrowth Spectrum
Dr. Jun T. Park
Pediatric Neurology | Neurology

University Hospitals Medical Group Inc

36000 Euclid Ave, 
Willoughby, OH 
216-844-3800
Languages Spoken:
English, Korean
See accepted insurances
Accepting New Patients

Jun Park is a Pediatric Neurologist and a Neurologist in Willoughby, Ohio. Dr. Park is rated as an Experienced provider by MediFind in the treatment of PIK3CA-Related Overgrowth Spectrum. His top areas of expertise are Epilepsy in Children, Seizures, Epilepsy, and West Syndrome. Dr. Park is currently accepting new patients.

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What are the latest PIK3CA-Related Overgrowth Spectrum Clinical Trials?
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation
Enrollment Status: Recruiting
Publish Date: October 14, 2025
Intervention Type: Drug
Study Phase: Phase 2

Summary: This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, RLY-2608, in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations driven by PIK3CA mutation. Part 1 is a dose selection, Part 2 is a basket design with exploratory single-arm cohorts for various subpopulations of participants, and Part 3 is randomize...

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The Phenotype and Etiology of Proteus Syndrome
The Phenotype and Etiology of Proteus Syndrome
Enrollment Status: Recruiting
Publish Date: October 07, 2025

Summary: This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, t...

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