MedTrace Logo

Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation

NCT02428296 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 39

Last updated 2020-02-05

Study results available
· View outcomes & findings →

Summary

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.

Conditions

  • PIK3CA-Related Overgrowth Spectrum (PROS)
  • Growth Disorder
  • Genetics

Interventions

DRUG

Sirolimus

Low dose sirolimus will be given in daily dosing to achieve trough levels of 2-6 ng/ ml.

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Kim M Keppler-Noreuil, M.D. · National Human Genome Research Institute (NHGRI)

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
3 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-04-23
Primary Completion
2018-02-14
Completion
2018-02-14

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02428296 on ClinicalTrials.gov