NCT04316546Active, not recruitingPhase 2

MK-7075 (Miransertib) in Proteus Syndrome

A Multi-Cohort Phase 2 Dose-Escalation Study of MK-7075 (Miransertib) in Proteus Syndrome

Source: ClinicalTrials.gov · Last updated 17 Jul 2026

Brief summary (registry, in English)

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 with possibility of continued treatment beyond 4 years....

Status (registry): Active, not recruiting
Phase (registry): Phase 2
Study type: Interventional
Enrollment: 38 (actual)
First submitted: 19 Mar 2020
Start date: May 2022
Primary completion date: Jun 2026
Lead sponsor: National Human Genome Research Institute (NHGRI)
NCT number: NCT04316546

What you commit to

Study type: Interventional · Phase 2
Participants enrolled: 38
From May 2022 to the primary completion date, Jun 2026
1 site in 1 country
Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Prior treatment

Major surgery, radiotherapy, chemotherapy, or immunotherapy within four weeks of the first dose of miransertib
Any experimental systemic therapy for the purpose of treating Proteus syndrome (e.g., sirolimus, everolimus, high dose steroids, alpelisib) within two weeks of the first dose of miransertib, except for participants who were previously or are currently treated with miransertib under a Compassionate Use/Expanded Access program or existing protocol
- -Participants who were previously treated with or currently are receiving miransertib will be enrolled on Cohort 3 and treated according to the Schedule of Assessments/Study Visits defined in this protocol
Intolerance of, or severe toxicity attributed to, AKT inhibitors (e.g., miransertib, uprosertib, afuresertib, ipatasertib)
Concurrent severe uncontrolled illness not related to Proteus syndrome
- Ongoing or active infection
- Known human immunodeficiency virus (HIV) infection malabsorption syndrome
- Psychiatric illness/substance abuse/social situation that would limit compliance with study requirements
Inability to comply with study evaluations or to follow drug administration guidelines
Concomitant use of a prohibited medication

Other illness

History of clinically significant cardiac disorders:
- Myocardial infarction (MI) or congestive heart failure defined as Class II-IV per the New York Heart Association (NYHA) classification within six months of the first dose of miransertib (MI occurring \>6 months of the first dose of miransertib will be permitted)
- Grade 2 (per National Cancer Institute \[NCI\] Common Terminology Criteria for Adverse Events \[CTCAE v 5.0\]) or worse conduction defect (e.g., right or left bundle branch block).

Lab values

History of Type 1 or Type 2 uncontrolled diabetes mellitus requiring regular medication (other than metformin or other oral hypoglycemic agents) or fasting glucose \>=160 mg/dL ( if \>12 years old) and \>=180 mg/dL (if \<=12 years old) at the baseline/screening visit

Other

An individual who meets any of the following criteria will be excluded from participation in this study:
Pregnant or breastfeeding (contraception requirements can be found above and in the informed consent form)
Regular tobacco use and/or use of cannabidiol/tetrahydrocannabidiol (CBD/THC), and/or vaping products

Criteria the registry did not label

INCLUSION CRITERIA:
- All participants in all Cohorts must meet the criteria below:
Signed informed consent, and when applicable, signed assent
Have a molecular diagnosis of Proteus syndrome with documented somatic AKT1 mutation from a CLIA-certified laboratory or international equivalent.
Have progressive and measurable disease (e.g., a measurable manifestation of Proteus syndrome with evidence or report of worsening of manifestation(s)/ in the last 12 months)
Adequate organ function as indicated by the following laboratory values:
- Hematological:
- Hemoglobin (Hgb): \>=10.0 g/dL
- Glycated hemoglobin (HbA1c): \<=8% (\<=64 mmol/mol)
- Absolute neutrophil count (ANC): \>=1.5 x 10\^9/L
- Platelet count \>=150 x 10\^9/L
- Hepatic:
- Total bilirubin \<=2 x upper limit of normal (ULN)
- Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) \<=3 x ULN
- Renal:
- Serum creatinine depending on age:
- 2-5 years male and female: \<=0.50 mg/dL
- 6-10 years male and female: \<=0.59 mg/dL
- 11-15 years male and female: \<=1.2 mg/dL
- \>15 years male and female: \<=1.5 mg/dL
- Metabolic (lipids):
- Cholesterol: \<=400 mg/dL (\<=10.34 mmol/L)
- Triglyceride: \<=500 mg/dL (\<=5.7 mmol/L)
If a female is of child-bearing potential, documentation of a negative pregnancy test is required prior to enrollment. Sexually active participants (male and female) must agree to use double-barrier contraceptive measures, oral contraception, or avoidance of intercourse while on study and for up to 90 days after ending treatment
Ability to complete the questionnaires by the participant and/or his/her caregiver
- The following specific criteria will be used to assign participants to Cohorts:
- Cohort 1 (Proteus syndrome with plantar CCTN) specific criteria:
Have at least one plantar CCTN that can accurately be measured by standardized photography. The CCTN is defined as a nevus with at least two gyri and three sulci affecting 10% - 70% of the total surface area of the foot.
Male or female participants age \>=3 and \<=17 years old and BSA of \>=0.33 m\^2
- Cohort 2 (Proteus syndrome without plantar CCTN) specific criteria:
Individuals without an evaluable plantar CCTN
No prior exposure to miransertib
Male or female participants age \>=3 years old and BSA of \>=0.33 m\^2
- Cohort 3 (Proteus syndrome previously treated with miransertib) specific criteria:
Participants previously treated with miransertib or currently receiving miransertib under Compassionate Use/Expanded Access or an existing trial (i.e., 16-HG-0014)
Male or female participants \>=3 years old and BSA of \>=0.33 m\^2
- Note: All participants must meet Cohort-related age criteria by/on the date of the first dose, Cycle 1 Day 1

Age in the registry: 3 years to 99 years · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (1)

Sites in registry order. Pick your city on the disease page to sort them by distance.

Site	City	Country	Site status
National Institutes of Health Clinical Center Coordinator of this site? Confirm its status	Bethesda	United States	Unknown status

This page is information, not medical advice. Discuss any trial with your doctor.