Evaluating a potential treatment for ROSAH Syndrome using blood samples
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.
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 |
|---|---|
| Enrollment | 4 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 5 sites (Lyon, Auvergne-Rhône-Alpes and 4 other locations) |
| Trial ID | NCT05319132 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients who do not have the T237M mutation or are under legal protection may not benefit from this study.
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 performed: 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.
Eligibility criteria
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 this trial is running
Lyon, Auvergne-Rhône-Alpes and 4 other locations
- Hôpital Nord Croix Rousse — Lyon, Auvergne-Rhône-Alpes, France (Recruiting)
- service de Genetique - Institut de Biologie Santé PBH-IBS — Angers, France (Not_yet_recruiting)
- Hôpital de la Pitié Salpétrière — Paris, France (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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.