Clinical Trials Logo

Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06432556
Other study ID # RC31/23/0362
Secondary ID 2024-A00021-46
Status Not yet recruiting
Phase N/A
First received
Last updated
Start date June 1, 2024
Est. completion date June 15, 2026

Study information

Verified date May 2024
Source University Hospital, Toulouse
Contact Cristina Bulai Livideanu, MD
Phone 0567778138
Email livideanu.c@chu-toulouse.fr
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

This study will aim to study the heterogeneity of skin-resident mast cells and of blood circulating hematopoietic progenitors in patients suffering from isolated Cutaneous Mastocytosis and from systemic Mastocytosis with skin lesions.


Description:

Mastocytosis is a rare disease caused by abnormal mast cell accumulation/proliferation. Its clinical features are very heterogeneous. Among adult patients, 15% present an isolated cutaneous mastocytosis (CM), while 85% of them present a systemic mastocytosis (SM) with cutaneous lesions. In addition, regardless of the diagnosis (i.e., CM or SM), it is frequent to observe mast cell-dependent symptoms of variable severity, ranging from gastrointestinal discomfort to life-threatening reactions. To date, the origin of such heterogeneous manifestations in adult patients is still elusive. Researchers hypothesize that the heterogeneity in mastocytosis symptoms might originate, at least in part, from a broad diversity of mast cell populations in patients. This study will aim to uncover heterogeneity of skin-resident mast cells and of blood circulating hematopoietic progenitors in patients suffering from isolated CM or SM with skin lesions. Patients with isolated CM and patients with SM with cutaneous involvement will be recruited from the Mastocytosis Expert Center of Toulouse. Cluster of Differentiation (CD) 45+ cells from skin biopsies and CD 34+ cells from blood will be isolated by magnetic cell sorting for scRNAseq. Bioinformatics analysis pipeline will be used in order to analyze the cellular heterogeneity of skin lesions and blood from CM and SM patients by comparing their transcriptomic signatures. Using trajectories analysis, the researchers will then deduce infer a differentiation pathway between blood progenitors and cutaneous mast cells at the patient level. Researchers will then confirm the expression of identified relevant biomarkers by highly multiplexed imaging in frozen skin biopsies from CM patients and from SM patients.


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 26
Est. completion date June 15, 2026
Est. primary completion date June 8, 2026
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
scRNAseq
A blood test tube (only for scRNAseq, 2 tubes of 10 ml per patient)
Procedure:
two Skin biopsies
2 skin biopsies from a lesional area
one Skin biopsies
1 skin biopsies from a lesional area

Locations

Country Name City State
France University Hospital Toulouse

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Other marker through advanced imaging techniques (multiplexed imaging), marker in patients with isolated cutaneous mastocytosis and systemic mastocytosis will be identified compared with control sample 24 month and one week
Other marker - isolated cutaneous mastocytosis through advanced imaging techniques (multiplexed imaging), marker in patients with isolated cutaneous mastocytosis will be identified compared with control sample 24 month and one week
Other marker - systemic mastocytosis through advanced imaging techniques (multiplexed imaging), marker in patients with systemic mastocytosis will be identified compared with control sample 24 month and one week
Primary Study of the diversity of skin CD 45+ cells and circulating blood CD 34+ cells This study aims to examine the diversity of CD 45+ cells in the skin and CD 34+ cells in the circulating blood in patients. The approach used will be single cell sequencing (scRNAseq) to identify the transcriptomic profiles of the different cell populations in these two types of mastocytosis. 24 month and one week
Secondary Study of common or differential transcripts This part of the study will focus on analyzing common or differential genetic transcripts between patients with isolated cutaneous mastocytosis and those with systemic mastocytosis. The aim is to understand the underlying molecular differences between these two forms of the disease. 24 month and one week
See also
  Status Clinical Trial Phase
Completed NCT01333293 - The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Phase 2/Phase 3
Completed NCT01481909 - Study on Mastocytosis for Rupatadine Treatment Phase 2/Phase 3
Recruiting NCT00044122 - Study of Factors Regulating Mast Cell Proliferation
Recruiting NCT06440148 - Relationship Between Circulating Sclerostin and Bone Lesions in Patients With Mastocytosis
Recruiting NCT03340155 - Mechanisms of Action of Photo(Chemo)Therapy in Skin Diseases N/A
Not yet recruiting NCT05084872 - Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients Phase 2/Phase 3
Terminated NCT01701843 - Cromoglicate in Mastocytosis Phase 2
Completed NCT00831974 - Efficacy of AB1010 in Patients With Systemic Indolent Mastocytosis Phase 2
Completed NCT00047918 - Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing N/A
Completed NCT00006413 - Stem Cell Transplantation to Treat Systemic Mastocytosis Phase 2
Completed NCT00050193 - Cause and Natural Course of Pediatric-Onset Mastocytosis
Completed NCT02620254 - Mast Cell Connect: A Registry for Patients With Mastocytosis
Completed NCT00255346 - Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) Phase 2
Completed NCT00001356 - Characteristics of Mast Cells in Mastocytosis N/A
Recruiting NCT06466889 - Mastocytosis Registry (of Zurich)
Recruiting NCT05186753 - (Summit) A Study to Evaluate the Efficacy and Safety of CGT9486 Versus Placebo in Patients With Indolent or Smoldering Systemic Mastocytosis Phase 2
Completed NCT02478957 - Treatment of Indolent Systemic Mastocytosis With PA101 Phase 2
Recruiting NCT02450396 - Pregnancy and Medically Assisted Conception in Rare Diseases
Completed NCT00038675 - Therapy of HES, PV, Atypical Chronic Myelocytic Leukemia (CML) or Chronic Myelomonocytic Leukemia (CMML), and Mastocytosis With Imatinib Mesylate N/A
Completed NCT00336076 - Molecular Mechanisms and Diagnosis of Mastocytosis N/A