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

Completed

Conditions: mast cell abundance
Mastocytosis
10001708
10018865

Registration Number: NL-OMON48390

Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 40

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

Lidocaine hypersensitivity.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Differences in gene expression and gene-networks in bone marrow resident mast<br /><br>cells and their progenitors between ISM and non-ISM patients identified by<br /><br>single-cell RNA sequencing. </p><br>

Secondary Outcome Measures

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