Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome
Proteus syndrome (PS) is caused by a mutation in the AKT1 gene. This gene makes a protein that communicates with other proteins in the body to make cells grow. The AKT1 mutation changes chemical signals in the body and causes overgrowth. PS can be fatal. The drug ARQ 092 reduces signals from the AKT1 protein. This may reduce or stabilize some of the overgrowth in people with PS. Researchers want to find the best dose of ARQ 092 based on its effect on tissues in people with PS.
To determine the safety, tolerability, and recommended dose of ARQ 092 in people with PS.
People ages 6 and older with PS
Participants will be screened with medical history, physical exam, and blood and urine tests.
Participants will take ARQ 092 by mouth once daily for up to 12 28-day cycles.
Participants must stay near the NIH Clinical Center (CC) during the whole first cycle, for weekly visits to the CC. For cycle 2, they will have visits every 2 weeks. They will have 1 visit before cycles 3 and 4, and once before every other cycle for cycles 5 11. The final visit will be at the end of cycle 12. Visits may include:
Small skin samples taken.
ECG: Soft electrodes on the skin record heart signals.
Echocardiogram: A small probe held to the chest takes pictures of the heart.
MRI: Participants will lie in a machine that takes pictures of the body.
Joint and mobility function tests.
Participants will complete surveys by phone and in person.
Participants will keep a daily medication and symptom diary.
|Study Design:||Intervention Model: Single Group Assignment
Masking: No masking
Primary Purpose: Treatment
|Official Title:||Phase 1 Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome|
- Tissue drug levels [ Time Frame: 15 +/- 3 Days ]
- Tissue phospho-AKT level [ Time Frame: 15+/-3 Days ]
- Tolerability and side effects [ Time Frame: 6 months ]
|Study Start Date:||October 29, 2015|
|Estimated Study Completion Date:||December 31, 2017|
|Estimated Primary Completion Date:||December 31, 2017 (Final data collection date for primary outcome measure)|
All participants will receive drug
|Drug: ARQ 092|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02594215
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Leslie G Biesecker, M.D.||National Human Genome Research Institute (NHGRI)|