Medications for PIK3CA-Related Overgrowth Spectrum
Other names: PROS
PIK3CA-Related Overgrowth Spectrum (PROS) is a spectrum of rare conditions and is characterized by atypical overgrowths and anomalies in blood vessels, the lymphatic system and other tissues. Specific conditions associated with PROS include:
Klippel-Trenaunay syndrome (KTS) - characterized by overgrowth and vascular malformations.
CLOVES syndrome - characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal abnormalities.
Isolated Lymphatic Malformation (ILM) - mass that contains fluid, which often affects the head and neck.
Megalencephaly-Capillary Malformation (MCAP or M-CM) - characterized by a core set of brain features that include megalencephaly and ventriculomegaly, which may progress to hydrocephalus or cerebellar tonsillar ectopia.
HemiMegal​Encephaly (HME) - brain enlargement on one side of the brain.
HemiHyperplasia-Multiple Lipomatosis (HHML) - characterized by moderate abnormalities of asymmetry and overgrowth with multiple subcutaneous lipomata, and static or mildly progressive hemihyperplasia.
Facial Infiltrating Lipomatosis (FIL) - characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development, macrodontia, hemimacroglossia, and mucosal neuromas.
FibroAdipose Vascular Anomaly (FAVA) - type of vascular malformation characterized by intramuscular venous malformations.
Macrodactyly - fibrofatty enlargement of a limb or part of a limb.
Muscular HemiHyperplasia (HH) - overgrowth on one side of the body and may also be referred to as muscular hemihypertrophy.
FibroAdipose hyperplasia or Overgrowth (FAO) - characterized by segmental and progressive overgrowth of subcutaneous and visceral fibroadipose tissue. It may also be associated with skeletal and muscular overgrowth.
CLAPO syndrome - characterized by capillary malformation of the lower lip, which is congenital, always present in the midline, symmetrical, and well defined. Other features include lymphatic malformations, which often involve the face and/or neck. Overgrowth may be identified; however, it is not always evident.
Epidermal nevus - benign skin abnormality caused by an overgrowth of cells that can result in a flat or raised, discolored patch of skin.
Benign lichenoid keratosis - skin lesion that presents as raised plaque or as a papule.
Seborrheic keratosis - skin lesion that is often pigmented and appears wart-like or as a smooth papule.
The estimated prevalence of PROS conditions is approximately 14 people per million.
PROS is usually caused by somatic mutations in the PIK3CA gene. These changes typically are only present in some cells or some areas of the body, and are not known to be inherited. Rarely, PROS is caused by a de novo germline mutation, which is present in all cells of the body.
The diagnosis of a PROS disorder may include clinical assessment, imaging, observation of onset timing, and genomic testing of the PIK3CA gene.
Patients with PROS (PIK3CA-Related Overgrowth Spectrum) can experience disfiguring, function-limiting, and life-threatening effects.
Abnormal growth can cause:
pain
reduced mobility
scoliosis
spinal compression.
Lymphatic malformations can cause:
cellulitis.
Vascular malformations can cause:
internal bleeding
blood clots (DVT or PE)
varicose veins.
Other complications include:
urinary incontinence
abnormal kidneys
seizures
intellectual disability.
Treatment for a PROS disorder may involve surgical interventions, special education, and speech and physical therapies.
Vijoice (alpelisib) is the first FDA-approved treatment for PROS conditions. Vijoice works by inhibiting the PI3K pathway, predominantly the PI3K-alpha isoform, to treat the conditions caused by the effects of PIK3CA mutations in adults and children.
Drugs used to treat PIK3CA-Related Overgrowth Spectrum
The medications listed below are related to or used in the treatment of this condition.
For ratings, users were asked how effective they found the medicine while considering positive/adverse effects and ease of use (1 = not effective, 10 = most effective).
Activity
Activity is based on recent site visitor activity relative to other medications in the list.
Rx
Prescription only.
OTC
Over-the-counter.
Rx/OTC
Prescription or Over-the-counter.
Off-label
This medication may not be approved by the FDA for the treatment of this condition.
EUA
An Emergency Use Authorization (EUA) allows the FDA to authorize unapproved medical products or unapproved uses of approved medical products to be used in a declared public health emergency when there are no adequate, approved, and available alternatives.
Expanded Access
Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Pregnancy Category
A
Adequate and well-controlled studies have failed to demonstrate a risk to the fetus in the first trimester of pregnancy (and there is no evidence of risk in later trimesters).
B
Animal reproduction studies have failed to demonstrate a risk to the fetus and there are no adequate and well-controlled studies in pregnant women.
C
Animal reproduction studies have shown an adverse effect on the fetus and there are no adequate and well-controlled studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
D
There is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience or studies in humans, but potential benefits may warrant use in pregnant women despite potential risks.
X
Studies in animals or humans have demonstrated fetal abnormalities and/or there is positive evidence of human fetal risk based on adverse reaction data from investigational or marketing experience, and the risks involved in use in pregnant women clearly outweigh potential benefits.
N
FDA has not classified the drug.
Controlled Substances Act (CSA) Schedule
M
The drug has multiple schedules. The schedule may depend on the exact dosage form or strength of the medication.
U
CSA Schedule is unknown.
N
Is not subject to the Controlled Substances Act.
1
Has a high potential for abuse. Has no currently accepted medical use in treatment in the United States. There is a lack of accepted safety for use under medical supervision.
2
Has a high potential for abuse. Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. Abuse may lead to severe psychological or physical dependence.
3
Has a potential for abuse less than those in schedules 1 and 2. Has a currently accepted medical use in treatment in the United States. Abuse may lead to moderate or low physical dependence or high psychological dependence.
4
Has a low potential for abuse relative to those in schedule 3. It has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 3.
5
Has a low potential for abuse relative to those in schedule 4. Has a currently accepted medical use in treatment in the United States. Abuse may lead to limited physical dependence or psychological dependence relative to those in schedule 4.
Alcohol
X
Interacts with Alcohol.
Further information
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