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

Sponsor
Hospices Civils de Lyon (Other)
Overall Status
Not yet recruiting
CT.gov ID
NCT05319132
Collaborator
(none)
4
Enrollment
12
Anticipated Duration (Months)

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase
  • Other: Adult subjects with ROSAH syndrome

Study Design

Study Type:
Observational
Anticipated Enrollment :
4 participants
Observational Model:
Cohort
Time Perspective:
Prospective
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.
Anticipated Study Start Date :
Aug 1, 2022
Anticipated Primary Completion Date :
Aug 1, 2023
Anticipated Study Completion Date :
Aug 1, 2023

Outcome Measures

Primary Outcome Measures

  1. 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.

Eligibility Criteria

Criteria

Ages Eligible for Study:
18 Years and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

No locations specified.

Sponsors and Collaborators

  • Hospices Civils de Lyon

Investigators

  • Principal Investigator: YVAN JAMILLOUX, Service de medecine interne - Hôpital de la Croix Rousse

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Hospices Civils de Lyon
ClinicalTrials.gov Identifier:
NCT05319132
Other Study ID Numbers:
  • 69HCL22_0299
First Posted:
Apr 8, 2022
Last Update Posted:
Jun 6, 2022
Last Verified:
Mar 1, 2022
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Hospices Civils de Lyon
ROSAH Syndrome.
Additional relevant MeSH terms:
Syndrome

Study Results

No Results Posted as of Jun 6, 2022