An exploratory phase II study aimed to detect long term changes in volume of port-wine macrocheilia and color of port-wine stain in patients undergoing surgery and laser therapy during sirolimus treatment. Quality of life and efficacy and safety of sirolimus will be assessed. PLASS-Q

Overview

Sponsor-declared trial summary

Key facts

Sponsor

Oslo University Hospital HF

Participant type

Pediatric, Patients

Age range

0-17 years, 18-64 years

Gender

Male and Female

Therapeutic area

Diseases [C] - Hemic and Lymphatic Diseases [C15]

Decision date (initial)

2026-06-15

Transition trial

No

Low-intervention

No

Rare-disease indication

No

Vulnerable population

No

Trial design

CTIS Part I — objectives, methods, condition coding

Main objective

Scope: Therapy

The primary objective is to demonstrate that treatment with sirolimus after surgery will achieve long-term volume reduction of PWM 5 years after study start.

Secondary objectives 2

1. The main secondary objective is to demonstrate that treatment with sirolimus during laser treatment will achieve long term bleaching of PWS 5 years after study start.
2. The additional secondary objective is to demonstrate improvement of quality of life 5 years after study start

Conditions and MedDRA coding

Vascular malfomation

Eligibility criteria

Principal inclusion / exclusion criteria as submitted by sponsor

Inclusion criteria 9

1. 1. Patients of both gender with PWS in V2 and V3 area, with upper- or/and lower lip hypertrophy (PWM)
2. 2. Patients with progression of PWS or no change in PWS during the last two months before inclusion
3. 3. Age >5 and 25
4. 4. Positive GNAQ R 183 gene failure test
5. 5. Performance status ASA I or II
6. 6. Patients with adequate bone marrow function: Hemoglobin > 10.0 g/dl, neutrophiles >1500/mm3 and platelets > 100.000/mm3.
7. 7. Patients with following laboratory values: Total serum bilirubin ≤ 1.5 upper limit of normal (ULN). Serum alanine aminotransferase (ALAT) and aspartate aminotransferase ASAT) ≤ 3 x ULN. Serum creatinine 1.5 x ULN. If the serum creatinine is ≥ 1.5 x ULN, then a 24-hour Creatinine Clearance must be conducted and the result must be ≥ 60 mL/min.
8. 8. Negative urine pregnancy test in female patients with childbearing potential.
9. 9. Written and verbal informed consent received from patient or patients legally authorized representative.

Exclusion criteria 14

1. 1. Suspected lack of compliance
2. 2. Patients with prior treatment with PI3K and/or mTOR inhibitors
3. Patients with other medication not compatible with sirolimus.
4. 4. Patients with recent history of primary malignancy ≤ 5 years, including history of non-melanoma skin cancer, but with exception of carcinoma in situ of cervix.
5. 5. Immunocompromised patients, including known seropositivity for HIV.
6. 6. Severe proteinuria (> 3g proteinuria/24h).
7. 7. Pregnancy or sexually active female patients and female partners of male patients without use of adequate contraceptive measures while on study and for up to 12 weeks after ending sirolimus treatment.
8. 8. Breast feeding.
9. 9. Impaired cardiac function or clinically significant cardiac diseases, including unstable angina pectoris, ventricular arrhythmia, valvular disease with documented compromise in cardiac function, documented myocardial infarction within the last 6 months, documented cardiomyopathy, family history of congenital long or short QT.
10. 10. Impairment of Gastro-Intestinal (GI) function or GI disease that may significantly alter the absorption of sirolimus (e.g., ulcerative diseases, uncontrolled nausea, vomiting, diarrhea ≥ Grade 2, malabsorption syndromes, or small bowel resection).
11. 11. Known hypersensitivity to drugs or metabolites from similar classes as the study medicine (i.e., everolimus and temsirolimus).
12. 12. The oral solution contains soy and must not be provided to subjects with hypersensitivity to peanuts or soy
13. 13. Patient with other concurrent severe and /or uncontrolled medical condition that may react negatively on the study drug.
14. 14. Patient or patients legally authorized representative who do not understand or read Norwegian.

Endpoints

Primary and secondary outcome measures (English text)

Primary endpoints 1

1. • The primary endpoint is relative change in volume of PWM from baseline to 60 months. Volume will be evaluated in 3 dimensions with at caliper.

Secondary endpoints 2

1. • The main secondary endpoint is change in color intensity of PWS from baseline to 60 months. Color will be evaluated four categories light red/pink, deep red, bluish red and purple.
2. • The additional secondary endpoint is change of quality of life from baseline to 60 months. Quality of life will be evaluated by OVAMA face and neck score.

Investigational products

Investigational medicinal products (IMPs), comparators, placebo, auxiliary

Test 2

Sponsors and contacts

Sponsor organisations, regulatory contacts, third parties

Oslo University Hospital HF

Sponsor organisation

Oslo University Hospital HF

Address

Taarnbygget, Kirkeveien 166 Kirkeveien 166

City

Oslo

Postcode

0450

Country

Norway

Scientific contact point

Organisation

Oslo University Hospital HF

Contact name

Lore Diab

Public contact point

Organisation

Oslo University Hospital HF

Contact name

Lore Diab

Locations

1 EU/EEA country · 1 investigational sites

By country

Investigational sites

Results and documents

Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial

Documents 7 files

Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.

Application history

1 submissions — initial application plus substantial / non-substantial modifications