Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
Public ClinicalTrials.gov record NCT02428296. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Background: \- PIK3CA-related overgrowth spectrum (PROS) is caused by changes in the PIK3CA gene. This gene makes a protein that communicates with other proteins in the body to cause cells to grow. Alterations in PIK3CA change the chemical signals in the body and cause overgrowth in fatty, vascular and other tissues. Sirolimus is a drug that reduces the signals sent by one of the proteins in this chemical signaling pathway. Researchers want to learn whether the drug sirolimus can reduce or stabilize some of the overgrowth that patients with PROS experience. Objectives: \- To measure how the overgrowth of patients with PROS changes over time and whether taking a drug called sirolimus can reduce or stabilize a person s overgrowth. Eligibility: \- People ages 3 to 65 years old with a confirmed mutation or alteration of the PIK3CA gene in the person s affected tissues (a somatic mutation). Design: * Participants will be screened with medical history and genetic counseling. * First 6 months: Participants will have their overgrowth monitored. * Next 6 months: Participants will take sirolimus once or twice a day. * Participants will have to visit the clinic several times, and stay in the area for 4 to 5 days each time. * Participants will have a one month-long visit to the clinic. * During clinic visits, participants will have: * Blood and urine tests. * Photographs of their physical features. * Scans, including an MRI and DEXA, and possibly x-rays and CT scans. * For the MRI and CT scans, participants will lie in a machine that takes pictures of their body. * The DEXA involves a small amount of radiation. * They may have: * Non-invasive heart function tests. * Lung function tests. * Participants will have several blood and urine tests between visits. * Participants will complete surveys and keep a diary of their treatment and side effects. * Participants may visit other health specialists or undergo other tests based on side effects. * One month after stopping the study drug, participants will have 1 clinic visit.
Study identification
- NCT ID
- NCT02428296
- Recruitment status
- Completed
- Study type
- Interventional
- Phase
- Phase 2
- Enrollment
- 39 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 3 Years to 65 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Apr 22, 2015
- Primary completion
- Feb 13, 2018
- Completion
- Feb 13, 2018
- Last update posted
- Feb 4, 2020
2015 – 2018
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT02428296, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Feb 4, 2020 · Synced Sep 6, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02428296 live on ClinicalTrials.gov.