Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood... | NCT05319132

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

NCT05319132

Sponsor

Hospices Civils de Lyon

Status

Recruiting

Last Update Posted

Aug 8, 2025Actual

Enrollment

4Estimated

Phase

Not provided

Conditions

Unrecognized Condition

Interventions

Adult subjects with ROSAH syndrome

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Aug 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 6, 2022Actual

Primary Completion Date

May 6, 2028Estimated

Completion Date

May 6, 2028Estimated

First Submitted Date

Mar 31, 2022

First Submission Date that Met QC Criteria

Mar 31, 2022

First Posted Date

Apr 8, 2022Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 7, 2025

Last Update Posted Date

Aug 8, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

4Estimated

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Adult subjects with ROSAH syndrome	Other	The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

This study concerns adult subjects with ROSAH syndrome

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
YVAN JAMILLOUX, MD	Contact	04 26 73 26 36	+33	yvan.jamilloux@chu-lyon.fr
Nora MARTEL	Contact	04 26 73 28 62	+33	nora.martel@chu-lyon.fr

Overall Officials

Name	Affiliation	Role
YVAN JAMILLOUX	Service de medecine interne - Hôpital de la Croix Rousse	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hôpital Nord Croix Rousse	Recruiting	Lyon	Auvergne-Rhône-Alpes	69004	France