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TOPical Sirolimus in linGUal Microcystic Lymphatic Malformation -TOPGUN

Phase 2
Recruiting
Conditions
Lingual Microcystic Lymphatic Malformations
Interventions
Registration Number
NCT04128722
Lead Sponsor
University Hospital, Tours
Brief Summary

Lingual microcystic lymphatic malformations (LMLMs) are rare congenital vascular malformations, presenting as clusters of cysts filled with lymph fluid or blood. They are responsible for a heavy burden even with small well-limited lesions because of oozing, bleeding, infections, or even speech, chewing or breathing impairment. Pain and aesthetic prejudice are also frequently reported. The natural history of LMLMs is progressive worsening. LMLMs complex management requires multidisciplinary care in specialised centres, and the "wait-and-see" approach is frequently used. In complicated lymphatic malformations, whatever the location, treatment with oral sirolimus, an mTOR (mammalian Target of Rapamycin) inhibitor, is often used.

Topical sirolimus is a known effective treatment for some cutaneous conditions such as angiofibromas in tuberous sclerosis. Topical applications of sirolimus on the buccal mucosae have been reported in erosive lichen planus and oral pemphigus vulgaris with good tolerance and none to slight detectable blood sirolimus concentrations.

The objective of this study is to evaluate the efficacy and safety of a 1mg/mL sirolimus solution applied once daily on mild to moderate lingual microcystic lymphatic malformation in children and adults after 4, 8, 12, 16, 20 and 24 weeks of treatment as compared to usual care (no treatment).

Detailed Description

This is a randomized, open-labelled, multicenter pilot study using an individually randomized stepped wedge design over a 24 weeks period to evaluate topical application of 1 mg/mL sirolimus solution, 0.5 mL to 1 mL according to the size of the lesion, once daily, on lingual microcystic lymphatic malformation that do not require systemic treatment, the experimental intervention versus usual care (no treatment), the control condition.

In this design, subjects are included in a cohort where at a randomized time (W0, W4, W8 or W12), they switch from an observational period to the interventional period.

All subjects will be followed for 24 weeks

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
12
Inclusion Criteria
  • Participants ≥ 5 years of age
  • Lingual microcystic lymphatic malformation that does not require systemic treatment, assessed by clinical examination and head-and-neck MRI imaging prior to study enrolment, with or without underlying syndromic malformation (CLAPO for instance)
  • Participants covered by or having the rights to social security
  • Written informed consent obtained from participant and participant's legal representative if participant is under 18
  • Ability for participant to comply with the requirements of the study
Exclusion Criteria
  • Patients with a lymphatic malformation requiring a continued background therapy (involving deep organs)
  • Secondary lymphatic malformations (lymphangiectasia post-radiotherapy, etc)
  • Previous treatment with systemic or topical mTOR (mammilian target of rapamycin) inhibitors within 12 months before inclusion (half-life of oral sirolimus is 60 days in adults).
  • Previous treatment with oral or topical steroids within 10 days before inclusion (half-life of corticosteroids is 12-36 hours)
  • Immunosuppression (immunosuppressive disease or immunosuppressive treatment)
  • Ongoing neoplasia
  • Active chronic infectious disease (Hepatitis-B virus, Hepatitis-C virus, HIV, etc)
  • Local necrosis
  • Local fungal, viral (herpes simplex virus, varicella zoster virus, etc) or bacterial infection on the site of the LMLM (based on clinical examination)
  • Known allergy to one of the components of the sirolimus solution
  • Soy bean or Peanut allergy
  • Pregnant or breastfeeding women
  • Women of child-bearing potential (including teenagers) not using a reliable contraceptive method until the end of the study and three month after the end of the study or sirolimus discontinuation.
  • Already involved in another therapeutic trial

Study & Design

Study Type
INTERVENTIONAL
Study Design
CROSSOVER
Arm && Interventions
GroupInterventionDescription
Sirolimus 1mg/mLSirolimus Oral Liquid Product 1mg/mLApplication of 1 mg/mL sirolimus solution, 0.5 mL to 1 mL according to the size of the lesion, once daily, on lingual microcystic lymphatic malformation, the experimental intervention versus usual care (no treatment), the control condition.
Primary Outcome Measures
NameTimeMethod
Change in Physical Global Assessment (PGA) after topical application of Sirolimus for 12 weeks12 weeks

The primary outcome will consist in the evaluation of global severity of the LMLM using PGA (Physical Global Assessment) 0 to 5 score, by three independent blinded experts, on monthly standardized photographs.

A 1-point improvement versus baseline in PGA scale would already have a clinical relevance.

Our primary analysis will focus on change in PGA after topical application of Sirolimus for 12 weeks

Secondary Outcome Measures
NameTimeMethod
Investigator-assessed PGAat weeks 0, 4, 8, 12, 16, 20 and 24

Investigator-assessed PGA (Physical Global Assessment)

General side effectsrom the switch to intervention up to the end of the study, i.e a maximum of 24 weeks.

Follow-up of general side effects

Measurements of the lesionat baseline, at time of switch to the intervention (either week 0, week 4, week 8 or week 12) and week 24.

by the investigator, at baseline, time of switch to treatment and week 24.

Assessment of sirolimus blood passageafter 4 weeks of treatment, then 8 weeks, then every 8 weeks until week 24

by measuring residual sirolimus blood concentration: after 4 weeks of treatment, then 8 weeks, then every 8 weeks until week 24

Global evolution assessed by the patientat weeks 4, 8, 12, 16, 20 and 24.

Global evolution assessed by the patient from -10 to 10 (-10 = severe worsening, 0 = no change, 10 = complete recovery), at weeks 4, 8, 12, 16, 20 and 24.

Assessment of tolerance of topical sirolimus:from the switch to intervention up to the end of the study, i.e a maximum of 24 weeks.

record of local side effects at each visit after the patient has crossed over to the intervention, up to 24 weeks

Evaluation of biological safetyafter 8,16 and up to 24 weeks

Number of participants with at least one biological abnormality treatment-related adverse events as assessed by CTCAE v4.0

Assessment by the patient regarding severity of oozing, bleeding, sialorrhea, eating impairment, taste modification, aesthetic impairment, pain and global discomfort,at weeks 0, 4, 8, 12, 16, 20 and 24.

Assessment by the patient regarding severity of oozing, bleeding, sialorrhea, eating impairment, taste modification, aesthetic impairment, pain and global discomfort, each using a numeric scale from 0 to 10 (0: clear, 10: very severe), at weeks 0, 4, 8, 12, 16, 20 and 24

Time to obtain optimal resultsup to 24 weeks

i.e. time from switch to treatment to time reaching the minimal PGA score

Global Quality of life assessmentat baseline, at time of switch to the intervention (either week 0, week 4, week 8 or week 12) and week 24.

(DLQI or children's DLQI for minors aged 5 to 16), at baseline, time of switch to treatment and week 24.

Trial Locations

Locations (3)

REGIONAL Hospital of ORLEANS -Service de Dermatologie

🇫🇷

Orléans, Loiret, France

Hospital NECKER -AP-HP - Dermatology

🇫🇷

Paris, France

Univsersity of TOURS _ Service de Dermatologie

🇫🇷

Tours, Indre Et Loire, France

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