Overview
Alpha-1 kinase (ALPK1) has been reported as a potential causative gene for ROSAH Syndrome.
Genetic variants including T237M have been found in ROSAH Syndrome patients. Our in-house study has found that T237M mutation leads to hyperactivity of ALPK1, which may be the cause of the inflammatory syndromes found in ROSAH Syndrome patients. We hypothesize that T237M mutation ALPK1 cause ROSAH Syndrome and an ALPK1 inhibitor can be a potential therapy for treating this disease. To test our hypothesis, we designed an experiment in which ex vivo peripheral blood mononuclear cells (PBMCs) from ROSAH Syndrome patients will be exposed to a potent ALPK1 inhibitor (DF-003) or placebo. We expect to see downregulation of activated inflammatory genes, chemokine/cytokines and acute phase proteins in the ROSAH Syndrome patient samples that are exposed DF-003.
Eligibility
Inclusion Criteria:
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
Exclusion Criteria:
- person under legal protection or under protectives measures
- person unable to express consent
- person in emergency situation (vital or not)
- person infected by Human Immunodeficiency Virus and/or Hepatitis B Virus and/or Hepatitis C Virus