Study of Cellular Heterogeneity in Patients With Mastocytosis

Launched by UNIVERSITY HOSPITAL, TOULOUSE · May 21, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the differences in certain cells in patients with mastocytosis, a condition where there are too many mast cells (a type of immune cell) in the body. Specifically, the study will look at mast cells in the skin and certain blood cells in patients who have isolated cutaneous mastocytosis (affecting only the skin) or systemic mastocytosis that includes skin lesions. The goal is to learn more about how these cells behave in different patients, which could help in finding better treatments in the future.

To participate in this study, individuals must be diagnosed with one of the specific types of mastocytosis and have their KIT mutation status known. They also need to agree to join the study in writing. However, there are some important criteria that could exclude someone from participating, such as having certain advanced forms of mastocytosis, being pregnant or breastfeeding, or having had recent sun exposure on the areas that would be biopsied. If eligible, participants can expect to provide skin samples and have their health monitored throughout the study. Overall, this research aims to deepen our understanding of mastocytosis and potentially improve treatment options for those affected.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• * Criteria related to the study population:
• • Subject affiliated with a social security or insurance scheme
• • Subject who has given written consent to his participation in the study
• * Criteria related to the studied pathology:
• • Subject diagnosed with isolated cutaneous or indolent systemic mastocytosis with associated skin involvement defined according to World Health Organization criteria (and/or international criteria for cutaneous mastocytosis)
• • Subjects whose KIT mutation status is known in the skin, bone marrow, and blood
• Exclusion Criteria:
• * Criteria related to the study population:
• • Sun exposure of the biopsied areas expected within the 4 weeks preceding
• • Subjects who have had exposure to sunlight or artificial UV radiation within the 2 weeks preceding inclusion at the biopsied areas
• • Adult patients under legal protection, guardianship, or curatorship
• • Pregnant or lactating women
• * Criteria related to the studied pathology:
• • Subjects with an advanced version of the pathology or advanced systemic mastocytosis (SAMA)
• • Subjects with a known history of allergy or intolerance to local anesthetics
• • Subjects who have previously shown abnormalities in skin healing or any other contraindication to skin biopsy
• • Subjects with recognized addiction to alcoholism or drug abuse
• • Subjects with a hereditary or acquired disorder of hemostasis
• • Subjects with a severe or acute chronic condition judged by the investigator as incompatible with the trial
• • Subjects presenting a clinically incompatible immune deficiency with the study
• • Patients without a well-established diagnosis of mastocytosis
• • Patients included in a therapeutic study for indolent systemic mastocytosis
• * Treatment-related criteria:
• • Any topical or systemic treatment for atopic dermatitis (including phototherapy) ongoing or stopped at least 14 days before the inclusion visit
• • Systemic corticosteroids within the 4 weeks preceding the inclusion visit
• • Ongoing systemic treatment likely to interfere with the healing process
• • Subjects who have undergone physical treatment (radiotherapy, etc.) on the biopsy area in the past 6 months
• • History of treatment or concomitant treatment that may interfere with the conduct of the study as determined by the investigator