Overview
PIK3CA-related overgrowth syndrome, often called PROS, is a group of rare conditions caused by changes (mutations) in a gene called PIK3CA. This gene normally helps control how cells grow and divide. When the gene has a mutation, certain cells in the body grow too much, leading to overgrowth of tissues like fat, muscle, bone, or blood vessels in specific parts of the body. The overgrowth can affect almost any area — a limb, the face, the brain, or internal organs — and the pattern is different from person to person. PROS includes several conditions that were previously given separate names, such as CLOVES syndrome, megalencephaly-capillary malformation syndrome (MCAP), Klippel-Trénaunay syndrome, fibroadipose hyperplasia, and hemimegalencephaly, among others. Doctors now group these together under the PROS umbrella because they share the same genetic cause. Symptoms can range from mild to severe depending on which tissues are affected and how many cells carry the mutation. Common features include uneven growth of limbs or body parts, abnormal blood or lymphatic vessels, skin birthmarks, and in some cases brain involvement leading to seizures or developmental delays. Treatment focuses on managing symptoms, and an exciting development is the use of alpelisib (a PIK3CA inhibitor), which has shown real promise in reducing overgrowth in some patients.
Also known as:
Key symptoms:
Overgrowth of one or more limbs, making them larger or longer than the other sideAbnormal fatty tissue growths under the skin or inside the bodyAbnormal blood vessels or lymphatic vessels (vascular malformations)Port-wine stains or other skin birthmarksEnlarged brain or one side of the brain being larger than the otherSeizuresDevelopmental delays or intellectual disability (in cases with brain involvement)Scoliosis or other spine problemsEnlarged or misshapen feet or handsOvergrowth of internal organsLymphatic fluid buildup causing swellingIncreased risk of blood clots
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsAin Shams University
University of North Carolina, Chapel Hill
Novartis Pharmaceuticals — PHASE2
Boston Medical Center — NA
Brooke Army Medical Center — NA
The University of Texas at Dallas — NA
Relay Therapeutics, Inc. — PHASE2
University of Calgary — NA
National Cancer Centre, Singapore
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableVijoice
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
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to PIK3CA-related overgrowth syndrome.
Community
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Start the conversation →Latest news about PIK3CA-related overgrowth syndrome
Disease timeline:
New recruiting trial: Use of Airpod Pros as Assistive Technology
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: Patient Reported Outcomes (PROs) in Anal Cancer Patient Treated by Intensity Modulated Radiotherapy (IMRT).
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: Enhanced Clinical Decisions for Management of Benign Prostatic Hyperplasia Using Patient-Reported Outcomes
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CYH33 in Patients With PIK3CA-related Overgrowth Spectrum (PROS) and PIK3CA-related Vascular Malformations (PRVM)
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: Innovating Access to Novel Therapies Through Standardized Prospective Integration of Response Evaluations (IMPACT-INSPIRE)
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: Improving Hypertension Control in Safety-Net Settings: The Boston Hypertension Equity Alliance in Treatment
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: A LONGITUDINAL OBSERVATIONAL STUDY to EVALUATE the EFFICACY of MOVEMENT and IMPLEMENT CONCRETE MOVEMENT RECOMMENDATIONS with the HELP of MOBILITY TRACKING with SMARTWATCHES in SUBJECTS with AXIAL SPONDYLOARTHRITIS
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: PROM Project Urology
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: UK ENcorafenib and BInimetinib Real-world Study in Melanoma
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
New recruiting trial: EPIK-P4: A Phase II Single-arm Study to Assess the Efficacy, Safety and Pharmacokinetics of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (PROS)
A new clinical trial is recruiting patients for PIK3CA-related overgrowth syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which tissues or organs are affected in my (or my child's) case, and how will this be monitored over time?,Is alpelisib (Vijoice) appropriate for my situation, and what are the expected benefits and risks?,What type of genetic testing do you recommend, and should it be done on blood or affected tissue?,What specialists should be part of my care team, and how often should I see each one?,Are there clinical trials I should know about for PROS?,What warning signs should prompt me to seek emergency care?,What support services — such as physical therapy, educational support, or mental health resources — are available to us?
Common questions about PIK3CA-related overgrowth syndrome
What is PIK3CA-related overgrowth syndrome?
PIK3CA-related overgrowth syndrome, often called PROS, is a group of rare conditions caused by changes (mutations) in a gene called PIK3CA. This gene normally helps control how cells grow and divide. When the gene has a mutation, certain cells in the body grow too much, leading to overgrowth of tissues like fat, muscle, bone, or blood vessels in specific parts of the body. The overgrowth can affect almost any area — a limb, the face, the brain, or internal organs — and the pattern is different from person to person. PROS includes several conditions that were previously given separate names, s
How is PIK3CA-related overgrowth syndrome inherited?
PIK3CA-related overgrowth syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PIK3CA-related overgrowth syndrome typically begin?
Typical onset of PIK3CA-related overgrowth syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for PIK3CA-related overgrowth syndrome?
Yes — 13 recruiting clinical trials are currently listed for PIK3CA-related overgrowth syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat PIK3CA-related overgrowth syndrome?
4 specialists and care centers treating PIK3CA-related overgrowth syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for PIK3CA-related overgrowth syndrome?
1 patient support program are currently tracked on UniteRare for PIK3CA-related overgrowth syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.