MastocytosisMastCellHetNCT06432556
Study of Cellular Heterogeneity in Patients With Mastocytosis
A study testing scRNAseq, two Skin biopsies and one Skin biopsies in people with Mastocytosis, run by University Hospital, Toulouse at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Mastocytosis
- What is being tested?
- scRNAseq, two Skin biopsies and one Skin biopsies
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 26 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jun 2024to 15 Jun 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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:
Show all 21Show fewer
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Study of Cellular Heterogeneity in Patients With Mastocytosis (MastCellHet) Mastocytosis Cell Heterogeneity
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.
Read the detailed 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.
- Conditions
- Mastocytosis
- Being tested
- scRNAseq, two Skin biopsies, one Skin biopsies
- Keywords
- Mastocytosis, Mast cells, Cellular heterogeneity, CD 45+, CD 34+
- Medical subject headings
- Mastocytosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
scRNAseqGenetic
A blood test tube (only for scRNAseq, 2 tubes of 10 ml per patient)
two Skin biopsiesProcedure or surgery
2 skin biopsies from a lesional area
one Skin biopsiesProcedure or surgery
1 skin biopsies from a lesional area
| Study group | Role | What they receive |
|---|---|---|
| patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq | Other | Not described Receives: Genetic: scRNAseq; Procedure: two Skin biopsies |
| patients with mastocytosis indolent systemic with associated skin involvement | Other | Not described Receives: Procedure: one Skin biopsies |
| patients with isolated cutaneous mastocytosis with associated skin involvement | Other | Not described Receives: Procedure: one Skin biopsies |
| patients with mastocytosis indolent systemic with associated skin involvement - RNAseq | Other | Not described Receives: Genetic: scRNAseq; Procedure: two Skin biopsies |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 24 month and one week
Secondary outcomes (1)
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.
Measured: 24 month and one week
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 May 2024
- Study start1 Jun 2024 (estimated)
- Primary completion8 Jun 2026 (estimated)
- Study completion15 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MastocytosisStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 26 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Cristina Bulai Livideanu, MD, Principal investigator, Toulouse univiversity hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06432556
- Sponsor's protocol ID
- RC31/23/0362
- Other IDs
- 2024-A00021-46
- Acronym
- MastCellHet
- Status last verified
- May 2024
- First submitted
- 29 Apr 2024
- Last updated
- 29 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Cellular Heterogeneity in Patients With Mastocytosis (MastCellHet) Mastocytosis Cell Heterogeneity
- ClinicalTrials.gov ID
- NCT06432556
- Acronym / sponsor ID
- MastCellHet / RC31/23/0362
- Conditions
- Mastocytosis
- Keywords
- Mastocytosis, Mast cells, Cellular heterogeneity, CD 45+, CD 34+
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 26 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 1 Jun 2024 (estimated)
- Primary completion
- 8 Jun 2026 (estimated)
- Study completion
- 15 Jun 2026 (estimated)
- First posted
- 29 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 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)
Key exclusion criteria (21 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| scRNAseqA blood test tube (only for scRNAseq, 2 tubes of 10 ml per patient) | Genetic | patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq, patients with mastocytosis indolent systemic with associated skin involvement - RNAseq |
| two Skin biopsies2 skin biopsies from a lesional area | Procedure or surgery | patients with isolated cutaneous mastocytosis with associated skin involvement - RNAseq, patients with mastocytosis indolent systemic with associated skin involvement - RNAseq |
| one Skin biopsies1 skin biopsies from a lesional area | Procedure or surgery | patients with isolated cutaneous mastocytosis with associated skin involvement, patients with mastocytosis indolent systemic with associated skin involvement |
Primary outcome
Study of the diversity of skin CD 45+ cells and circulating blood CD 34+ cells
Time frame: 24 month and one week
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.
1 secondary outcome
Study of common or differential transcripts
Time frame: 24 month and one week
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Cristina Bulai Livideanu, MD principal investigator
Toulouse univiversity hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing scRNAseq, two Skin biopsies and one Skin biopsies in people with Mastocytosis, run by University Hospital, Toulouse at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 21 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 29 May 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Cristina Bulai Livideanu, MD (0567778138 ext. +33, livideanu.c@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study of the diversity of skin CD 45+ cells and circulating blood CD 34+ cells (time frame: 24 month and one week). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 May 2024.