Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Adult subjects with ROSAH syndrome.
- Who it may be relevant to
- Registry conditions: Unrecognized Condition. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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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.
Overview
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.
Interventions
- 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.
Primary outcome measures
- Cytokine release assays [Time frame: At day 0]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 5 centers
- Hôpital Nord Croix Rousse — Lyon
- service de Genetique - Institut de Biologie Santé PBH-IBS — Angers
- Hôpital de la Pitié Salpétrière — Paris
- Service D'ophtalmologie — Reims
- Service de médecine interne et immunologie clinique — Rennes
Identifiers
NCT: NCT05319132 · 69HCL22_0299