NCT05319132

Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome

A Phase 0 Study to Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cells (PBMC) From Subjects With Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and Headache (ROSAH) Syndrome.

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 4 (estimated)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Unrecognized Condition

Interventions

Type	Name	Description
OTHER	Adult subjects with ROSAH syndrome	The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.

Timeline

• Start date: 2022-09-06
• Primary completion: 2028-05-06
• Completion: 2028-05-06
• First posted: 2022-04-08
• Last updated: 2025-08-08

Locations

5 sites across 1 country: France