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

Recruiting

• Conditions: Unrecognized Condition

• Registration Number: NCT05319132
• Lead Sponsor: Hospices Civils de Lyon

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-03-31
• Study First Submitted QC: 2022-03-31
• Study First Posted: 2022-04-08
• Study Start: 2022-09-06
• Status Verified: 2024-07
• Last Update Submitted: 2025-04-10
• Last Update Posted: 2025-04-11
• Primary Completion: 2028-05-06
• Study Completion: 2028-05-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 4

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Cytokine release assays	At day 0	The Cytokine release assays will analyzed by ELISA in cells supernatants the Interleukin 8 (IL-8), Tumor Necrosis Factor (TNF) concentrations in the presence/absence of DF-003 and control.

Trial Locations

Locations (5)

Hôpital Nord Croix Rousse; 🇫🇷 Lyon, Rhône-Alpes, France

Service de médecine interne et immunologie clinique; 🇫🇷 Rennes, France

Service D'ophtalmologie; 🇫🇷 Reims, France

Hôpital de la Pitié Salpétrière; 🇫🇷 Paris, France

service de Genetique - Institut de Biologie Santé PBH-IBS; 🇫🇷 Angers, France