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Active Not Recruiting
NCT04316546
MK-7075 (Miransertib) in Proteus Syndrome
Conditions: Proteus Syndrome
Sex: All
Ages: 3 Years – 99 Years
Healthy volunteers: No
Phase: PHASE2
Enrollment: 38
Sponsor: National Human Genome Research Institute (NHGRI)
Location: National Institutes of Health Clinical Center Bethesda Maryland
Summary
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.
Eligibility Criteria
* INCLUSION CRITERIA:
All participants in all Cohorts must meet the criteria below:
1. Signed informed consent, and when applicable, signed assent
2. Have a molecular diagnosis of Proteus syndrome with documented somatic AKT1 mutation from a CLIA-certified laboratory or international equivalent.
3. 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)
4. Adequate organ function as indicated by the following laboratory values:
Hematological:
* Hemoglobin (Hgb): \>=10.0 g/dL
* Glycated hemoglobin (HbA1c): \=150 x 10\^9/L
Hepatic:
1. Total bilirubin \
Source: ClinicalTrials.gov (NCT04316546). StuddyBuddy aggregates publicly available trial information.
