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

Completed · Phase 2

Conditions studied: PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics

In brief

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.

Key facts

Study ID

NCT02428296

Run by

National Human Genome Research Institute (NHGRI)

People needed

39

Starts

2015-04-23

Expected to finish

2018-02-14

Last updated by the study team

2020-02-05

Who can join

Age: 3 and older, up to 65. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• The participant may not enter the study if ANY of the following apply:
• Age less than 3 years or greater than 65 years
• Pregnant or breastfeeding
• Women and men of reproductive age without an effective method of contraception (during treatment and up to 12 weeks after sirolimus discontinuation)
• Hypersensitivity to sirolimus or any of the excipients
• Any current medical disorder or medication likely to impair ability to follow the study protocol safely and effectively
• Incapacity to give informed consent
• Sirolimus treatment in the prior 4 weeks
• If less than 3 months post-surgery
• Prior malignancy or ongoing investigations for malignancy
• Active skin infections requiring antibiotics or anti-viral medication
• HCV/HBV/HIV seropositivity
• Previous/ active MTB infection
• Pneumonitis
• Research radiation exposure within previous 12 months
• Adult participants or participants under the age of 15 years with insufficient English language proficiency to complete informed consent and quality of life measures
• We propose to restrict participation in this study to those with sufficient English language skills to complete the quality of life measures we will employ among all three study sites, as many of the specific quality of life measures we are employing at the NIH only are not available in other languages.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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