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

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.

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.

Study Overview

• Status: Recruiting
• Conditions: Unrecognized Condition
• Intervention / Treatment: Other: Adult subjects with ROSAH syndrome

• Study Type: Observational
• Enrollment (Estimated): 4

Contacts and Locations

• Study Contact: Name: YVAN JAMILLOUX, MD; Phone Number: +33 04 26 73 26 36; Email: yvan.jamilloux@chu-lyon.fr
• Study Contact Backup: Name: Nora MARTEL; Phone Number: +33 04 26 73 28 62; Email: nora.martel@chu-lyon.fr

Study Locations

• France
  • Angers, France, 49000
    • Not yet recruiting
    • service de Genetique - Institut de Biologie Santé PBH-IBS
    • Contact: Dominique BONNEAU, MD; Phone Number: +33 0241353883; Email: DoBonneau@chu-angers.fr
  • Paris, France, 75013
    • Recruiting
    • Hôpital de la Pitié Salpêtrière
    • Contact: David SAADOUN, MD; Phone Number: +33 0142178042; Email: david.saadoun@aphp.fr
  • Reims, France, 51000
    • Not yet recruiting
    • Service d'Ophtalmologie
    • Contact: Léo OLORY GARNOTEL, MD; Phone Number: +33 03 26 78 78 78; Email: lolory-garnotel@chu-reims.fr
  • Rennes, France, 35000
    • Not yet recruiting
    • Service de médecine interne et immunologie clinique
    • Contact: Samuel ARDOIS, MD; Phone Number: +33 02 99 28 93 96; Email: samuel.ardois@chu-rennes.fr
  • Rhône-Alpes
    • Lyon, Rhône-Alpes, France, 69004
      • Recruiting
      • Hôpital Nord Croix Rousse
      • Contact: Yvan Jamilloux, MD; Phone Number: +33 0426732636; Email: yvan.jamilloux@chu-lyon.fr
      • Contact: Nora +33 Martel, PM; Phone Number: +33 0428732862; Email: nora.martel@chu-lyon.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

This study concerns adult subjects with ROSAH syndrome

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Cytokine release assays	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.	At day 0

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: YVAN JAMILLOUX, Service de médecine interne - Hôpital de la Croix Rousse

Study record dates

Study Major Dates

• Study Start (Actual): September 6, 2022
• Primary Completion (Estimated): May 6, 2028
• Study Completion (Estimated): May 6, 2028

Study Registration Dates

• First Submitted: March 31, 2022
• First Submitted That Met QC Criteria: March 31, 2022
• First Posted (Actual): April 8, 2022

Study Record Updates

• Last Update Posted (Actual): August 8, 2025
• Last Update Submitted That Met QC Criteria: August 7, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: ROSAH Syndrome.
• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Syndrome
• Other Study ID Numbers: 69HCL22_0299

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No