To investigate the functional consequences of the found variant in ARGHAP18 in mast cell behaviour.
ID
Source
Brief title
Condition
- White blood cell disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
In vitro assays using the cultured mast cells:
- Cell proliferation rate
- YAP phosphorylation and nuclear translocation
- CTGF production upon stimulation with thrombin
Secondary outcome
not applicable
Background summary
A germline variant in the gene for ARGHAP18 was found in a family with
mastocytosis. It is hypothesized that this variant leads to increased
proliferation and/or survival of mast cells, rendering them vulnerable to
second mutations, i.e. the D816V KIT mutation which ultimately causes the
clinical phenotype mastocytosis.
Study objective
To investigate the functional consequences of the found variant in ARGHAP18 in
mast cell behaviour.
Study design
Primary human mast cells will be cultured from CD34+ myeloid progenitors cells
derived from peripheral blood of family members with and without the ARGHAP18
variant.
Study burden and risks
The patients will have to provide 10 tubes of peripheral blood through
venapunction. The burden and risks associated with this procedure are very low.
The patients might benefit directly from this study because it will give
insight in their pedigree*s risk of mastocytosis and other diseases, and it
might even lead to new therapeutic options.
's-Gravendijkwal 230
Rotterdam 3015 CE
NL
's-Gravendijkwal 230
Rotterdam 3015 CE
NL
Listed location countries
Age
Inclusion criteria
We are planning to include the two adult members of the family and both parents
of the index patient (see family tree below).
Exclusion criteria
Not applicable
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL79369.078.21 |