Actively Recruiting
MK-7075 (Miransertib) in Proteus Syndrome
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-14
45
Participants Needed
1
Research Sites
319 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it. Researchers want to see if a new drug can slow down or stop overgrowth in people with Proteus syndrome. Objective: To learn if miransertib is a safe and effective treatment for Proteus syndrome. Eligibility: People ages 3 and older with Proteus syndrome. Design: Participants will be screened with a medical checkup. They will answer questions about their medical history and current health. They will have a physical exam with vital signs. They will have an electrocardiogram to measure their heartbeat. They will give blood and urine samples. They will repeat the screening tests during the study. Participants will take a miransertib pill once a day. They will bring their empty pill bottles with them to the NIH when they visit. If they can t swallow a pill, researchers will try to find other ways for them to take the drug. Participants will have X-rays, ultrasounds, and imaging scans. Photos may be taken of their feet and other parts of the body that have or develop signs of Proteus syndrome. Participants will have lung function tests to measure how much and how fast air moves out of their lungs. Participants will complete surveys about their levels of pain, physical functioning, and quality of life. Participants may have additional tests performed to assess their individual disease. They may have consultations with other specialists. Participation lasts about 4 years. Participants will have 20-30 visits at the NIH....
CONDITIONS
Official Title
MK-7075 (Miransertib) in Proteus Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed informed consent and assent if applicable
- Molecular diagnosis of Proteus syndrome with documented AKT1 mutation from a certified lab
- Progressive and measurable Proteus syndrome with worsening signs in the past 12 months
- Adequate organ function based on specific blood and lab values
- Ability to complete study questionnaires by participant or caregiver
- For females of child-bearing potential, a negative pregnancy test before enrollment
- Use of effective contraception if sexually active during and for 90 days after treatment
- Cohort 1: Age 3-17 years, with at least one measurable plantar cerebriform connective tissue nevus (CCTN) affecting 10%-70% of foot surface, and body surface area (BSA) ≥0.33 m²
- Cohort 2: Age 3 years and older without plantar CCTN, no prior miransertib exposure, and BSA ≥0.33 m²
- Cohort 3: Age 3 years and older previously or currently treated with miransertib, and BSA ≥0.33 m²
- Must meet cohort age criteria by first dose date
You will not qualify if you...
- Uncontrolled Type 1 or Type 2 diabetes requiring medication other than metformin or oral agents, or high fasting glucose at screening
- Significant heart problems: recent heart attack or heart failure within 6 months, or moderate or worse heart conduction defects
- Major surgery, radiotherapy, chemotherapy, or immunotherapy within 4 weeks before first dose
- Experimental systemic therapy for Proteus syndrome within 2 weeks before first dose, except prior miransertib use for Cohort 3
- Severe intolerance or toxicity to AKT inhibitors
- Severe uncontrolled illness unrelated to Proteus syndrome, including active infection or HIV
- Psychiatric illness, substance abuse, or social situations limiting study compliance
- Pregnant or breastfeeding
- Inability to follow study evaluations or drug guidelines
- Use of prohibited medications
- Regular tobacco, CBD/THC, or vaping product use
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
C
Christopher A Ours, M.D.
CONTACT
L
Leslie G Biesecker, M.D.
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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