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
Location: See all (5) locations...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• Male or female aged over 18

• Patient with ROSAH syndrome with the confirm T237M mutation

Locations
Other Locations
France
service de Genetique - Institut de Biologie Santé PBH-IBS
NOT_YET_RECRUITING
Angers
Hôpital Nord Croix Rousse
RECRUITING
Lyon
Hôpital de la Pitié Salpétrière
RECRUITING
Paris
Service D'ophtalmologie
NOT_YET_RECRUITING
Reims
Service de médecine interne et immunologie clinique
NOT_YET_RECRUITING
Rennes
Contact Information
Primary
YVAN JAMILLOUX, MD
yvan.jamilloux@chu-lyon.fr
04 26 73 26 36
Backup
Nora MARTEL
nora.martel@chu-lyon.fr
04 26 73 28 62
Time Frame
Start Date: 2022-09-06
Estimated Completion Date: 2028-05-06
Participants
Target number of participants: 4
Sponsors
Leads: Hospices Civils de Lyon

This content was sourced from clinicaltrials.gov