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.
1 other identifier
observational
4
1 country
5
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Sep 2022
Longer than P75 for all trials
5 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 31, 2022
CompletedFirst Posted
Study publicly available on registry
April 8, 2022
CompletedStudy Start
First participant enrolled
September 6, 2022
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 6, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
May 6, 2028
August 8, 2025
August 1, 2025
5.7 years
March 31, 2022
August 7, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
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
Interventions
The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.
Eligibility Criteria
This study concerns adult subjects with ROSAH syndrome
You may qualify if:
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (5)
Hôpital Nord Croix Rousse
Lyon, Auvergne-Rhône-Alpes, 69004, France
service de Genetique - Institut de Biologie Santé PBH-IBS
Angers, 49000, France
Hôpital de la Pitié Salpétrière
Paris, 75013, France
Service D'ophtalmologie
Reims, 51000, France
Service de médecine interne et immunologie clinique
Rennes, 35000, France
Biospecimen
4 blood samples of 7 ml for ex-vivo analysis
Study Officials
- PRINCIPAL INVESTIGATOR
YVAN JAMILLOUX
Service de medecine interne - Hôpital de la Croix Rousse
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 31, 2022
First Posted
April 8, 2022
Study Start
September 6, 2022
Primary Completion (Estimated)
May 6, 2028
Study Completion (Estimated)
May 6, 2028
Last Updated
August 8, 2025
Record last verified: 2025-08