Unrecognized ConditionROSAHNCT05319132
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
An observational study of Unrecognized Condition, run by Hospices Civils de Lyon at 5 sites in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Unrecognized Condition
- What is being tested?
- Adult subjects with ROSAH syndrome
- How many people
- 4 participants
- Where
- 5 sitesFrance
- Study dates
- 6 Sep 2022to 6 May 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: This study concerns adult subjects with ROSAH syndrome
Who may be able to join
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
Who cannot join
- 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
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
5 sites in 1 country
France5 sites, 5 recruiting
- Not yet recruiting
service de Genetique - Institut de Biologie Santé PBH-IBS
Angers, 49000
Dominique BONNEAU, MD, 0241353883 ext. +33, DoBonneau@chu-angers.fr
- Recruiting
Hôpital Nord Croix Rousse
Lyon, Auvergne-Rhône-Alpes, 69004
Yvan Jamilloux, MD, 0426732636 ext. +33, yvan.jamilloux@chu-lyon.fr
Nora +33 Martel, PM, 0428732862 ext. +33, nora.martel@chu-lyon.fr
- Recruiting
Hôpital de la Pitié Salpétrière
Paris, 75013
David SAADOUN, MD, 0142178042 ext. +33, david.saadoun@aphp.fr
- Not yet recruiting
Service D'ophtalmologie
Reims, 51000
Léo OLORY GARNOTEL, MD, 03 26 78 78 78 ext. +33, lolory-garnotel@chu-reims.fr
- Not yet recruiting
Service de médecine interne et immunologie clinique
Rennes, 35000
Samuel ARDOIS, MD, 02 99 28 93 96 ext. +33, samuel.ardois@chu-rennes.fr
About this study
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.
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.
- Conditions
- Unrecognized Condition
- Being tested
- Adult subjects with ROSAH syndrome
- Keywords
- ROSAH Syndrome.
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Adult subjects with ROSAH syndromeOther
The main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: At day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2022
- Study start6 Sep 2022
- Primary completion6 May 2028 (estimated)
- Study completion6 May 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Unrecognized ConditionStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 4 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- YVAN JAMILLOUX, Principal investigator, Service de medecine interne - Hôpital de la Croix Rousse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05319132
- Sponsor's protocol ID
- 69HCL22_0299
- Acronym
- ROSAH
- Status last verified
- Aug 2025
- First submitted
- 31 Mar 2022
- Last updated
- 8 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT05319132
- Acronym / sponsor ID
- ROSAH / 69HCL22_0299
- Conditions
- Unrecognized Condition
- Keywords
- ROSAH Syndrome.
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 6 Sep 2022 (actual)
- Primary completion
- 6 May 2028 (estimated)
- Study completion
- 6 May 2028 (estimated)
- First posted
- 8 Apr 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- This study concerns adult subjects with ROSAH syndrome
Key inclusion criteria (2 listed)
- Male or female aged over 18
- Patient with ROSAH syndrome with the confirm T237M mutation
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Adult subjects with ROSAH syndromeThe main objective is to evaluate the ex vivo inhibitory potential of DF-003 on alpha-1 kinase activity. | Other | – |
Primary outcome
Cytokine release assays
Time frame: At day 0
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Aug 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
YVAN JAMILLOUX principal investigator
Service de medecine interne - Hôpital de la Croix Rousse
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Unrecognized Condition, run by Hospices Civils de Lyon at 5 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact YVAN JAMILLOUX, MD (04 26 73 26 36 ext. +33, yvan.jamilloux@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cytokine release assays (time frame: At day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Aug 2025.