Functional investigation of a variant in ARGHAP18 in a family with mastocytosis

Functional investigation of a variant in ARGHAP18 in a family with mastocytosis - ARHGAP18 in familial mastocytosis

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON51623

Enrollment

Registered

2022-02-15

Start date

2022-02-23

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

hereditary mastocytosis

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: Not applicable

Design outcomes

Primary

Measure	Time frame
In vitro assays using the cultured mast cells: - Cell proliferation rate - YAP phosphorylation and nuclear translocation - CTGF production upon stimulation with thrombin	—

Countries

Netherlands

Outcome results