Phase II study of sirolimus in patients with vascular malformation undergoing surgery and laser therapy to assess long‑term reduction of port‑wine macrocheilia volume

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What is this study about?

Patients with a type of Vascular malformation that appears as a birthmark‑like skin discoloration called a port-wine stain and can cause an enlarged lip (port‑wine macrocheilia) are being observed. The skin discoloration is a reddish‑purple patch present from birth, and macrocheilia means the lip is larger than normal. The study uses the medicine sirolimus, which is given as a liquid oral solution or as coated tablets, to see how it affects these features.

The purpose of the study is to determine whether treatment with sirolimus after surgery can lead to a long‑term reduction in the size of the enlarged lip over a five‑year period. Participants undergo surgical removal of excess tissue and receive laser therapy to improve the skin’s appearance, followed by regular dosing of sirolimus. Over the next several years, they return for check‑ups in which the volume of the lip is measured with a simple tool, the color of the skin patch is recorded, and questionnaires about daily well‑being are completed.

The study also looks at the safety of sirolimus and how it may influence overall quality of life, which refers to a person’s comfort, happiness, and ability to do everyday activities. This research is conducted as a phase II trial, meaning it is an early step to gather detailed information about the treatment’s effects before larger studies are performed.

1 enrollment and baseline assessment

after joining the study, you will sign the consent form and provide baseline measurements.

baseline includes measurement of the volume of the lip (port-wine macrocheilia) using a caliper, assessment of the color of the port-wine stain, and completion of a quality of life questionnaire (ovama face and neck score).

2 initiation of sirolimus treatment

you will start taking sirolimus under the brand name rapamune at a dose of 5 mg taken orally each day.

the medication may be provided as a 1 mg/mL oral solution or as 2 mg coated tablets, according to the study pharmacy instructions.

treatment continues for the entire study period, up to 60 months, unless a safety reason requires stopping.

3 surgery

within the early weeks after starting medication, you will undergo the planned surgery to address the lip malformation.

the surgery is performed by the study surgeon and follows standard procedures for this condition.

4 laser therapy

following the surgical recovery period, you will receive laser therapy to treat the port-wine stain.

laser sessions are scheduled by the study team and may be repeated as needed during the study.

5 regular follow‑up visits

you will attend follow‑up visits at 3 months, 6 months, and then every 6 months until month 60.

at each visit, the study staff will re‑measure lip volume, evaluate stain color (light red/pink, deep red, bluish red, purple), and ask you to complete the quality of life questionnaire.

blood tests and safety checks will also be performed to monitor any side effects of sirolimus.

6 final assessment at 60 months

at month 60, a comprehensive evaluation will be performed, including the final measurement of lip volume, final color assessment of the stain, and a final quality of life questionnaire.

these results are used to determine the primary and secondary outcomes of the study.

7 study completion

after the final assessment, the study medication is discontinued and no further study visits are required.

your data will be analyzed to assess the long‑term effects of sirolimus on volume reduction, color change, and quality of life.

Who Can Join the Study?

Both males and females who have a port‑wine stain (PWS) on the face in the V2 and V3 areas and have an enlarged upper or lower lip (called PWM).
Their PWS has gotten worse or has not changed during the two months before joining the study.
They are between 5 and 25 years old.
A genetic test shows a positive result for the GNAQ R183 change.
They have an overall health rating of ASA I or II, meaning they are healthy or have only mild health problems.
Their bone‑marrow blood counts are within safe limits: hemoglobin higher than 10 g/dL, neutrophils higher than 1,500 per mm³, and platelets higher than 100,000 per mm³.
Blood‑test results must be within set ranges: total serum bilirubin no more than 1.5 times the normal upper limit; alanine aminotransferase (ALAT) and aspartate aminotransferase (ASAT) no more than three times the normal limit; creatinine no more than 1.5 times the normal limit. If creatinine is higher, a 24‑hour creatinine clearance test must show a result of at least 60 mL/min.
Female participants who could become pregnant must have a negative urine pregnancy test.
They must give both written and verbal informed consent (or have a legally authorized representative do so).

Who Cannot Join the Study?

Inability or unwillingness to follow the study rules and procedures (lack of compliance).
Having taken medicines that block PI3K or mTOR pathways before (these are drugs that affect cell growth).
Taking other medicines that can interact badly with the study drug sirolimus.
Having had any cancer (except a very early cervical lesion) within the past 5 years.
Having a weakened immune system (immunocompromised), including people who test positive for HIV.
Having a large amount of protein in the urine (proteinuria more than 3 grams per day).
Being pregnant, or being sexually active without using reliable birth control, and also the female partners of male participants who are not using reliable birth control, during the study and for up to 12 weeks after stopping the drug.
Breast‑feeding.
Having serious heart problems, such as unstable chest pain, abnormal heart rhythms, damaged heart valves, a heart attack in the last 6 months, heart muscle disease, or a family history of certain inherited heart rhythm disorders.
Having stomach or intestinal problems that could prevent the study drug from being absorbed properly (for example, ulcerative diseases, uncontrolled nausea, vomiting, moderate or severe diarrhea, conditions that cause poor nutrient absorption, or removal of part of the small intestine).
Being allergic (hypersensitive) to drugs similar to the study medicine, such as everolimus or temsirolimus.
Being allergic to soy or peanuts, because the oral solution of the study drug contains soy.
Having another severe or uncontrolled medical condition that could react negatively to the study drug.
Not being able to read or understand Norwegian, either for the patient or their legally authorized representative.

Where you can join this trial?

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Other Sites

Site Name	City	Country	Status
Oslo University Hospital HF	Oslo	Norway

Trial status

Country	Status	Recruitment Start
Norway	Not yet recruiting	01.10.2026

Trial locations

Investigated drugs:

Sirolimus

Rapamune oral solution is a liquid form of the drug sirolimus taken by mouth. In this study it is used to see if the medicine can help shrink the size of a thick, raised area of a port‑wine birthmark after patients have had surgery. The liquid can be easier to swallow for some people and is given as part of the regular treatment plan.

Rapamune coated tablets are pill form of the same medicine, sirolimus, also taken by mouth. The tablets are another way to give the drug to participants, allowing the study to compare how the medicine works in different forms while patients continue their normal care after surgery.

Surgery is a medical procedure where doctors remove or reshape tissue that is part of the port‑wine birthmark. The operation is done before starting the sirolimus treatment, and the study aims to find out whether the drug can keep the treated area smaller over many years.

Laser therapy uses focused light to target the colored skin of the port‑wine stain. After surgery, patients receive laser treatments to improve the appearance of the birthmark. The trial looks at how well the laser works together with sirolimus to maintain long‑term reduction in size and color.

Vascular malformation – A vascular malformation is a birth‑related cluster of abnormal blood vessels that forms in the skin, muscle, or organs. It is present at birth and usually grows proportionally with the child. Over time the lesion can become larger, thicker, or change color as the vessels expand. Some malformations may become more prominent during puberty or after injury. The condition typically follows a slow, steady course without sudden changes.

Trial ID:

2024-511937-37-01

Protocol code:

PLASS-Q

Trial Phase:

Therapeutic exploratory (Phase II)

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Phase II study of sirolimus in patients with vascular malformation undergoing surgery and laser therapy to assess long‑term reduction of port‑wine macrocheilia volume

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?