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

Unrecognized Condition Clinical Trial

— ROSAH  

Official title:

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.

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05319132
• Other study ID #: 69HCL22_0299
• Status: Recruiting
• Start date: September 6, 2022
• Est. completion date: January 6, 2025

Study information

• Verified date: June 2023
• Source: Hospices Civils de Lyon
• Contact: YVAN JAMILLOUX, MD
• Phone: 04 26 73 26 36
• Email: yvan.jamilloux[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 4
• Est. completion date: January 6, 2025
• Est. primary completion date: January 6, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Syndrome
• Unrecognized Condition

Intervention

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.

Locations

Country	Name	City	State
France	Hôpital Nord Croix Rousse	Lyon	Rhône-Alpes
France	Hôpital de la Pitié Salpétrière	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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