Evaluating a potential treatment for ROSAH Syndrome using blood samples
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.
Run by Hospices Civils de Lyon · NCT05319132 · Data updated 2026-11-12
This study is testing whether a new treatment can help reduce inflammation in blood cells from people with ROSAH Syndrome who have a specific genetic mutation.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 4 (estimated) |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 5 sites (Lyon, Auvergne-Rhône-Alpes and 4 other locations) |
| Status | Recruiting |
| Started | September 6, 2022 |
| Main results expected | May 6, 2028 |
| Study ends | May 6, 2028 |
| Registry record updated | August 8, 2025 |
| Trial ID | NCT05319132 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are adults over 18 years old who have been diagnosed with ROSAH Syndrome and confirmed to have the T237M mutation.
✕Probably not a fit
Patients who do not have the T237M mutation or are under legal protection may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to evaluate the effects of an ALPK1 inhibitor, DF-003, on peripheral blood mononuclear cells (PBMCs) from patients diagnosed with ROSAH Syndrome who carry the T237M mutation. The study will expose these cells to DF-003 or a placebo to assess changes in inflammatory gene expression and related biomarkers. By understanding the impact of the inhibitor on these cells, researchers hope to validate the hypothesis that the T237M mutation in ALPK1 contributes to the inflammatory symptoms associated with ROSAH Syndrome.
Why it matters
Potential benefit: If successful, this study could lead to a new therapeutic approach for managing ROSAH Syndrome and its associated inflammatory symptoms.
How similar studies have gone: While the specific approach of using DF-003 in ROSAH Syndrome is novel, the investigation of ALPK1 inhibitors in related inflammatory conditions has shown promise in other studies.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Hôpital Nord Croix Rousse
Lyon, Auvergne-Rhône-Alpes, France Recruiting -
Hôpital de la Pitié Salpétrière
Paris, France Recruiting -
service de Genetique - Institut de Biologie Santé PBH-IBS
Angers, France Not yet recruiting -
Service D'ophtalmologie
Reims, France Not yet recruiting -
Service de médecine interne et immunologie clinique
Rennes, France Not yet recruiting
Study contacts
- Principal investigator: Yvan Jamilloux — Service de medecine interne - Hôpital de la Croix Rousse
- Study coordinator: Yvan Jamilloux, Md
- Email: yvan.jamilloux@chu-lyon.fr
- Phone: 04 26 73 26 36
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.