Study of Cellular Heterogeneity in Patients With Mastocytosis

NCT06432556 | Not Yet Recruiting

• 2 other identifiers: RC31/23/03622024-A00021-46
• Study Type: interventional
• Target: 26
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Mastocytosis

Keywords

Mastocytosis; Mast cells; Cellular heterogeneity; CD 45+; CD 34+

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Study of common or differential transcripts

  24 month and one week

Other Outcomes (3)

• marker

  24 month and one week

• marker - isolated cutaneous mastocytosis

  24 month and one week

• marker - systemic mastocytosis

  24 month and one week

Study Arms (4)

patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq

OTHER

Genetic: scRNAseq; Procedure: two Skin biopsies

patients with mastocytosis indolent systemic with associated skin involvement

OTHER

Procedure: one Skin biopsies

patients with isolated cutaneous mastocytosis with associated skin involvement

OTHER

Procedure: one Skin biopsies

patients with mastocytosis indolent systemic with associated skin involvement - RNAseq

OTHER

Genetic: scRNAseq; Procedure: two Skin biopsies

Interventions

scRNAseq GENETIC

A blood test tube (only for scRNAseq, 2 tubes of 10 ml per patient)

patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq; patients with mastocytosis indolent systemic with associated skin involvement - RNAseq

two Skin biopsies PROCEDURE

2 skin biopsies from a lesional area

patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq; patients with mastocytosis indolent systemic with associated skin involvement - RNAseq

one Skin biopsies PROCEDURE

1 skin biopsies from a lesional area

patients with isolated cutaneous mastocytosis with associated skin involvement; patients with mastocytosis indolent systemic with associated skin involvement

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Criteria related to the study population:
• Sun exposure of the biopsied areas expected within the 4 weeks preceding
• 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:

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

University Hospital

Toulouse, 31059, France

Location

MeSH Terms

Conditions

Mastocytosis

Interventions

Single-Cell Gene Expression Analysis

Condition Hierarchy (Ancestors)

Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Mast Cell Activation Disorders; Immune System Diseases

Intervention Hierarchy (Ancestors)

Single-Cell Analysis; Cytological Techniques; Investigative Techniques; Gene Expression Profiling; Genetic Techniques

Study Officials

• Cristina Bulai Livideanu, MD

  Toulouse univiversity hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Cristina Bulai Livideanu, MD

CONTACT

0567778138; livideanu.c@chu-toulouse.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 29, 2024
• First Posted: May 29, 2024
• Study Start: June 1, 2024
• Primary Completion (Estimated): June 8, 2026
• Study Completion (Estimated): June 15, 2026
• Last Updated: May 29, 2024

Record last verified: 2024-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)