An interventional study of scRNAseq and two Skin biopsies in Mastocytosis, sponsored by University Hospital, Toulouse. Status unknown at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-05-29.
Sponsored by University Hospital, Toulouse · Not applicable, Interventional, and Other
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.
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.
77 studies on the registry are indexed under Mastocytosis; 16 are open to participants now.
This study's planned enrollment of 26 is below the median of 30 across 43 interventional studies indexed under Mastocytosis.
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Exclusion Criteria:
Genetic: scRNAseq · Procedure: two Skin biopsies
Procedure: one Skin biopsies
Procedure: one Skin biopsies
Genetic: scRNAseq · Procedure: two Skin biopsies
A blood test tube (only for scRNAseq, 2 tubes of 10 ml per patient)
2 skin biopsies from a lesional area
1 skin biopsies from a lesional area
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.
Time frame: 24 month and one week
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.
Time frame: 24 month and one week
marker
through advanced imaging techniques (multiplexed imaging), marker in patients with isolated cutaneous mastocytosis and systemic mastocytosis will be identified compared with control sample
Time frame: 24 month and one week
marker - isolated cutaneous mastocytosis
through advanced imaging techniques (multiplexed imaging), marker in patients with isolated cutaneous mastocytosis will be identified compared with control sample
Time frame: 24 month and one week
marker - systemic mastocytosis
through advanced imaging techniques (multiplexed imaging), marker in patients with systemic mastocytosis will be identified compared with control sample
Time frame: 24 month and one week
Plan to share: No
No publications or documents are linked to this record.
This study is status unknown, as verified in May 2024. You cannot join it, but the record below documents what was studied.
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