Actively Recruiting
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
Led by Hospices Civils de Lyon · Updated on 2025-08-08
4
Participants Needed
5
Research Sites
295 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
You will not qualify if you...
- Person under legal protection or protective 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
AI-Screening
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Trial Site Locations
Total: 5 locations
1
Hôpital Nord Croix Rousse
Lyon, Auvergne-Rhône-Alpes, France, 69004
Actively Recruiting
2
service de Genetique - Institut de Biologie Santé PBH-IBS
Angers, France, 49000
Not Yet Recruiting
3
Hôpital de la Pitié Salpétrière
Paris, France, 75013
Actively Recruiting
4
Service D'ophtalmologie
Reims, France, 51000
Not Yet Recruiting
5
Service de médecine interne et immunologie clinique
Rennes, France, 35000
Not Yet Recruiting
Research Team
Y
YVAN JAMILLOUX, MD
CONTACT
N
Nora MARTEL
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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