Molecular phenotyping of Mast Cells in Indolent Systemic Mastocytosis using Single Cell RNA-sequencing

Molecular phenotyping of Mast Cells in Indolent Systemic Mastocytosis using Single Cell RNA-sequencing - MC-ISM

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48390

Enrollment

Registered

2019-01-17

Start date

2019-03-26

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

mast cell abundance Mastocytosis

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - A clinical suspicion of ISM, based on a constellation of clinical complaints, including drowsiness, gastro-intestinal complaints, myalgia and fatigue, or manifestations such as urticaria pigmentosa, osteoporosis or anaphylaxis. - Eligible for a bone marrow biopsy - Legally capacitated adults -The second eligible patient group concerns patient enrolled in the avapritinib study (research register number 201800849, METc 2018.635). These patients with a confirmed diagnosis of ISM willl undergo a bone marrow biopsy as part of the study protocol of the avapritinib study. Therefore, also in this patient population no additional invasive procedures are required, hence the additional burden of the current study remains restricted to the withdrawal of the additional sample.

Exclusion criteria

Exclusion criteria: Lidocaine hypersensitivity.

Design outcomes

Primary

Measure	Time frame
Differences in gene expression and gene-networks in bone marrow resident mast cells and their progenitors between ISM and non-ISM patients identified by single-cell RNA sequencing.	—

Secondary

Measure	Time frame
Differences in gene expression and gene-networks in bone marrow resident mast cells and their progenitors between clinical subtypes of ISM, as identified by single-cell RNA sequencing. Differences in gene expression and gene-networks of other cell types in unpurified bone marrow aspirate that might be the result of the presence of mast cells (or their progenitors) carrying the somatic cKIT mutation.	—

Measure

Time frame

Differences in gene expression and gene-networks in bone marrow resident mast cells and their progenitors between clinical subtypes of ISM, as identified by single-cell RNA sequencing. Differences in gene expression and gene-networks of other cell types in unpurified bone marrow aspirate that might be the result of the presence of mast cells (or their progenitors) carrying the somatic cKIT mutation.

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Countries

Netherlands

Outcome results